View all contents - Ehlers Danlos Syndrome Variant Database

This page is now frozen. No new data will be added. No further corrections will be made.

The COL3A1 mutation data have been added to a new database.

About this overview [Show]

The variants below are all in the COL3A1 database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than COL3A1, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the COL3A1 full legend here.

1200 public entries
entries per page

Path.

Exon

DNA change

dbSNP

Type

Mutation Effect

Protein

Legacy change

RNA change

Re-site

Frequency

DB-ID

Patient ID

Disease

Reference

Template

Technique

Remarks

Ethnic origin


+/+	1-52	c.1-?_c.4401+?del	-	Deletion	Multi-exon deletion	-	-	-	-	-	COL3A1_00620	AN_004757	Vascular EDS	Frank et al., 2015, France:PARIS	DNA	SEQ	-	-
+/+	1	c.30G>A	-	Substitution	Nonsense	p.Trp10*	-	-	-	-	COL3A1_00373	AN_003101	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, PCR, RT-PCR, SEQ	-	-
-/-	02	c.119C>T	-	Substitution	Missense	p.Ala40Val	-	-	-	-	COL3A1_00746	89	AAD	Sakai et al., 2011	DNA	CNGP, mPCR, PCR, SeqArray	-	-
-?/+?	02	c.130G>A	-	Substitution	Missense	p.Val44Ile	-	-	-	-	COL3A1_00587	AN_004701	Vascular EDS	Frank et al., 2015, France:PARIS	DNA	SEQ	-	-
+/+	02	c.145C>G + c.145C>G	-	Substitution	Missense	p.Pro49Ala	-	-	-	-	COL3A1_00646	Patient 1	CCM	Vandervore et al., 2017	DNA	PCR, SEQ, WES	The proband's younger brother is also homozygous for this variant. The heterozygous parents are healthy.	Chechnyan
+/+	02	c.145C>G + c.145C>G	-	Substitution	Missense	p.Pro49Ala	-	-	-	-	COL3A1_00646	Patient 2	CCM	Horn et al., 2017	DNA	SEQ	The patient's younger brother is also homozygous for the variant. Both parents were heterozygous carriers of the variant. These patients are distinct from those in Vandervore et al., 2017	-
+?/+?	02	c.194_195dup	-	Duplication	Frameshift	p.Ile66*	-	-	-	-	COL3A1_00693		Vascular EDS	Legrand et al., 2019	DNA	PCR, SEQ	-	-
-?/-?	02	c.198A>G + COL5A2 (1)	-	Substitution	Missense	p.Ile66Met	-	-	-	-	COL3A1_00631	AN_005305	EDS III	Imperial College London, UK	DNA	HTS	Hypermobility EDS / BJHS: EDS III Benign connective tissue phenotype with coronary artery dissections.	Caucasian
+/+	02	c.202_207del	-	Deletion	In-frame deletion	p.Asp68_Asp69del	-	-	-	-	COL3A1_00340	AN_002958	Vascular EDS	Frank et al., 2015, France:PARIS	DNA	SEQ	This patient was subsequently described in Legrand et al., 2019.	-
+/+	03	c.318_325del	-	Deletion	Frameshift	p.Pro107Argfs*13	-	-	-	-	COL3A1_00648	AN_005688	Vascular EDS	Overwater et al., 2018, Netherlands:Amsterdam	DNA	CNGP	-	-
?/?	04_05	c.370G>C	-	Substitution	Missense	p.(Gly124Arg)	-	-	-	-	COL3A1_00653	AN_005694	AAD	Netherlands:Amsterdam	DNA	CNGP	-	-
+/+	04_05	c.413delC	-	Deletion	Frameshift	p.Pro138Leufs*27	-	-	-	-	COL3A1_00125	AN_003102	EDS IV	Schwarze et al., 2001 Pepin et al., 2014, United States:Seattle	DNA	PCR, SEQ	The patient was described by Schwarze et al., 2001 as patient P2. The patient was subsequently presented as Family 1 by Leistritz et al., 2011.	-
+/+	06	c.479dupT + c.479dupT	dbSNP	Duplication	Frameshift	p.Lys161Glnfs*45	-	-	-	-	COL3A1_00078		EDS IV	Plancke et al., 2009	RNA	RT-PCR, SEQ	The patient is homozygous for the variant and neither parent shows any symptoms of EDS. The variant is described as being in exon 5, but is in exon 6, using the accepted conventional exon numbering scheme. This patient was subsequently described as Patient 3 by Vandervore et al., 2017.	-
+/+	06	c.505C>T	-	Substitution	Missense	p.Leu169Phe	Leu2Phe	-	-	-	COL3A1_00004		Aortic aneurysms	Anderson et al., 1994 Matrix Biology 14, 392	RNA	RT-PCR, SEQ	-	-
+/+?	6i	c.528+5G>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00736	Patient 101	-	Henneton et al, 2019	DNA	MLPA, RT-PCR, SEQ	Patient is a 33 year old female. This patient was subsequently described in Frank et al., 2019 as patient 91.	-
+/+	07	c.530G>A	-	Substitution	Missense	p.Gly177Asp	Gly10Asp	-	-	-	COL3A1_00588	AN_004703	Vascular EDS	Frank et al., 2015, France:PARIS	DNA	SEQ	This patient was subsequently described in Legrand et al., 2019.	-
-/-	07	c.531C>A	dbSNP	Substitution	Silent	p.=	-	-	-	-	COL3A1_00183		-	Chan et al., 2008	DNA	PCR, SEQ	This is a non-pathogenic variant.	-
+/+	07	c.536delC	-	Deletion	Frameshift	p.Pro179Glnfs*43	Pro12Glnfs*43	-	-	-	COL3A1_00742	Y_130_31	TAAD	Weerakkody et al., 2018	DNA	CEP, mPCR	-	-
+/+	07	c.539G>A	-	Substitution	Missense	p.Gly180Asp	Gly13Asp	-	-	-	COL3A1_00250	rwmd	EDS IV	Naing et al., 2011	DNA	SEQ, hrMCA	-	Japanese
+/+	07	c.539G>A	-	Substitution	Missense	p.Gly180Asp	Gly13Asp	-	-	-	COL3A1_00250	AN_002962	Vascular EDS	Frank et al., 2015, France:PARIS	DNA	SEQ	This patient was subsequently described as Index Patient 219 (30F) in Henneton et al., 2019. This patient was described as Patient 1 in Frank et al., 2019 and was also described in Legrand et al., 2019.	-
+/+	07	c.539G>A	-	Substitution	Missense	p.Gly180Asp	Gly13Asp	-	-	-	COL3A1_00250	AN_003103	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, PCR, RT-PCR, SEQ	-	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003107	EDS IV	Pepin et al., 2000 Pepin et al., 2014, United States:Seattle	RNA	RT-PCR, SEQ, SSCP	-	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003110	EDS IV	Pepin et al., 2000 Pepin et al., 2014, United States:Seattle	RNA	RT-PCR, SEQ, SSCP	-	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003111	EDS IV	Pepin et al., 2000 Pepin et al., 2014, United States:Seattle	RNA	RT-PCR, SEQ, SSCP	-	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003112	EDS IV	Pepin et al., 2000 Pepin et al., 2014, United States:Seattle	RNA	RT-PCR, SEQ, SSCP	-	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003114	EDS IV	Pepin et al., 2000 Pepin et al., 2014, United States:Seattle	RNA	RT-PCR, SEQ, SSCP	-	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003115	EDS IV	Pepin et al., 2000 Pepin et al., 2014, United States:Seattle	RNA	RT-PCR, SEQ, SSCP	-	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003119	EDS IV	Pepin et al., 2000 Pepin et al., 2014, United States:Seattle	RNA	RT-PCR, SEQ, SSCP	-	-
?/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	P002	EDS IV	Spain:Valencia	DNA	SEQ	-	Caucasian
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	Patient 2	Vascular EDS	Mortani Barbosa et al., 2011	Unknown	Unknown	The protein level variant description is incorrectly described as "p.G16S".	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_002926	Vascular EDS	Frank et al., 2015, France:PARIS	DNA	SEQ	This patient was subsequently described in Legrand et al., 2019.	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003120	EDS IV	Kerwin et al., 2008 Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	This patient was identified as Subject 00-1123 by Kerwin et al., 2008.	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003104	EDS IV	Pepin et al., 2014, United States:Seattle	DNA	SEQ	de novo	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003105	EDS IV	Pepin et al., 2014, United States:Seattle	DNA	SEQ	-	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003106	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, PCR, RT-PCR, SEQ	-	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003108	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	de novo	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003109	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	de novo	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003113	EDS IV	Pepin et al., 2014, United States:Seattle	DNA	SEQ	de novo	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003116	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003117	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	affected sib	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003118	EDS IV	Pepin et al., 2014, United States:Seattle	DNA	SEQ	-	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_003121	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	07	c.547G>A	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006	AN_004705	Vascular EDS	France:PARIS	DNA	SEQ	This patient was subsequently described in Legrand et al., 2019.	-
+/+	07	c.547G>C	-	Substitution	Missense	p.Gly183Arg	Gly16Arg	-	-	-	COL3A1_00374	AN_003122	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	07	c.547G>T	-	Substitution	Missense	p.Gly183Cys	Gly16Cys	-	-	-	COL3A1_00005	AN_003123	EDS IV	Smith et al., 1997 Pepin et al., 2014, United States:Seattle	RNA	RT-PCR, SEQ, SSCP	This patient was identified as Sample 1 by Smith et al., 1997 and was subsequently described by Pepin et al., 2000.	-
+/+	07	c.548G>A	-	Substitution	Missense	p.Gly183Asp	Gly16Asp	-	-	-	COL3A1_00001	AN_003124	EDS IV	Pepin et al., 2000 Pepin et al., 2014, United States:Seattle	RNA	RT-PCR, SEQ, SSCP	-	-
+/+	07	c.548G>A	-	Substitution	Missense	p.Gly183Asp	Gly16Asp	-	-	-	COL3A1_00001	AN_002931	Vascular EDS	Frank et al., 2015, France:PARIS	DNA	SEQ	This patient was subsequently as Index Patient 111 (37F) in Henneton et al., 2019. This patient was described as Patient 2 in Frank et al., 2019 and was subsequently described in Legrand et al., 2019.	-
+/+	07	c.548G>C	-	Substitution	Missense	p.Gly183Ala	Gly16Ala	-	-	-	COL3A1_00297	AN_002817	Vascular EDS	Morissette et al., 2014, United States:Baltimore	DNA	IHC, SEQ, Western	Patient 17, Male, 51y, arterial event. His daughter, patient 18, AN_002818, female, 21y, arterial event, carries the same mutation	-
+/+	07	c.548G>C	-	Substitution	Missense	p.Gly183Ala	Gly16Ala	-	-	-	COL3A1_00297	AN_003125	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	mosaic parent	-
+?/+?	07	c.550C>T	-	Substitution	Missense	p.Pro184Ser	Pro17Ser	-	-	-	COL3A1_00214	P007	EDS IV	Spain:Valencia	DNA	SEQ	-	Caucasian
+/+	07	c.555delT	-	Deletion	Frameshift	p.Gly186Valfs*36	-	-	-	-	COL3A1_00126	AN_003126	EDS IV	Schwarze et al., 2001 Pepin et al., 2014, United States:Seattle	RNA	RT-PCR, SEQ, HA	This patient, described by Schwarze et al., 2001 as P3, was subsequently presented as Family 2 by Leistritz et al., 2011.	-
+/+	07	c.555delT	-	Deletion	Frameshift	p.Gly186Valfs*36	-	-	-	-	COL3A1_00126	AN_003127	EDS IV	Pepin et al., 2014, United States:Seattle	DNA	SEQ	-	-
+/+	07	c.555delT	-	Deletion	Frameshift	p.(Gly186Valfs*36)	-	-	-	-	COL3A1_00126	AN_005689	Vascular EDS	Overwater et al., 2018, Netherlands:Amsterdam	DNA	CNGP	-	-
+/+	07	c.556G>A	-	Substitution	Missense	p.Gly186Ser	Gly19Ser	-	-	-	COL3A1_00330	AN_002945	Vascular EDS	Frank et al., 2015, France:PARIS	DNA	SEQ	This patient was subsequently described in Legrand et al., 2019.	-
+/+	07	c.556G>A	-	Substitution	Missense	p.Gly186Ser	Gly19Ser	-	-	-	COL3A1_00330	AN_003128	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	07	c.565G>C	-	Substitution	Missense	p.Gly189Arg	Gly22Arg	-	-	-	COL3A1_00375	AN_003129	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	07	c.574G>A	-	Substitution	Missense	p.(Gly192Ser)	Gly25Ser	-	-	-	COL3A1_00674	Patient III-8	Vascular EDS	Henrard et al., 2019	DNA	Unknown	The patient's elder sister (III-6) also harbours the same sequence variant. The variant in this patient lies in exon 7, rather than in exon 6 as reported by the authors.	-
+/+	07	c.575G>A	-	Substitution	Missense	p.Gly192Asp	Gly25Asp	-	-	-	COL3A1_00279	Patient 3	Vascular EDS	Ferré et al., 2012, France:PARIS	DNA	PCR, SEQ	This patient is related to Patient 4 in Ferré et al., 2012, who carries the same variant. This patient was subsequently described by Frank et al., 2015. This patient was subsequently described as Index Patient 303 (21M) in Henneton et al., 2019, with two other relatives who carried the same variant, and also described in Legrand et al., 2019. They were also described as Patient 4 in Frank et al., 2019.	-
+/+	07	c.575G>A	-	Substitution	Missense	p.Gly192Asp	Gly25Asp	-	-	-	COL3A1_00279	Patient 4	Vascular EDS	Ferré et al., 2012 , France:PARIS	DNA	PCR, SEQ	This patient was subsequently described in Legrand et al., 2019 and also described as Patient 3 in Frank et al., 2019	-
+/+	07	c.575G>A	-	Substitution	Missense	p.Gly192Asp	Gly25Asp	-	-	-	COL3A1_00279	AN_004704	Vascular EDS	Frank et al., 2015, France:PARIS	DNA	SEQ	This patient was subsequently described in Legrand et al., 2019.	-
+/+	07	c.575G>T	-	Substitution	Missense	p.Gly192Val	Gly25Val	-	-	-	COL3A1_00007	AN_003130	EDS IV	Pepin et al., 2000 Pepin et al., 2014, United States:Seattle	RNA	RT-PCR, SEQ, SSCP	-	-
+/+	07i	c.582+1G>C	-	Substitution	Splice site	p.Pro178_Gly195del	-	r.529_582del	-	-	COL3A1_00139	AN_003132	EDS IV	Schwarze et al., 1997 Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	Patient is identified as 91-364 by Schwarze et al., 1997 and is Sample 12 in Smith et al., 1997.	-
+/+	07i	c.582+1G>C	-	Substitution	Splice site	p.Pro178_Gly195del	-	r.529_582del	-	-	COL3A1_00139	AN_003131	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	07i	c.582+2dupT	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00139	AN_003133	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	07i	c.582+5G>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00377	AN_003135	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	07i	c.582+5G>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00377	AN_004702	Vascular EDS	Frank et al., 2015, France:PARIS	DNA	SEQ	This patient was subsequently described as Index Patient 340 (14M) in Henneton et al., 2019. This patient was described as Patient 92 in Frank et al., 2019 and also described in Legrand et al., 2019.	-
+/+	07i	c.582+5G>T	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00378	AN_003136	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	07i	c.582+5_+11delinsACA	-	Deletion	Splice site	-	-	-	-	-	COL3A1_00376	AN_003134	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	07i	c.582+6T>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00379	AN_003137	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	07i	c.582+6T>C	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00161		EDS IV	Lloyd et al., 1993	DNA, RNA	PCR, RT-PCR, SEQ	The variant causes skipping of exon 7.	-
+/+	07i	c.582+6T>C	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00161	Patient 24	EDS IV	Pope et al., 1996	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	07i	c.582+53_798+317delinsATGCAAAATCAAA	-	Insertion/Deletion	In-frame deletion	p.Ser196_Gly267del	-	-	-	-	COL3A1_00127	AN_003671	EDS IV	Milewicz et al., 1993 Pepin et al., 2014, United States:Seattle	DNA, RNA	RT-PCR, SEQ, Southern	-	-
+/+	08	c.583G>A	-	Substitution	Missense	p.Gly195Arg	Gly28Arg	-	-	-	COL3A1_00673		Vascular EDS	Sanchez-Baya et al., 2019	DNA	CNGP	-	-
+/+	08	c.583G>C	-	Substitution	Missense	p.(Gly195Arg)	Gly28Arg	-	-	-	COL3A1_00380	AN_003138	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	08	c.583G>C	-	Substitution	Missense	p.(Gly195Arg)	Gly28Arg	-	-	-	COL3A1_00380	AN_002586	Vascular EDS	Italy:Brescia	DNA	PCR, SEQ	This is a sporadic case (de novo mutation verified).	Italian
+/+	08	c.592G>A	-	Substitution	Missense	p.Gly198Arg	Gly31Arg	-	-	-	COL3A1_00381	AN_003139	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	08	c.593G>A	-	Substitution	Missense	p.Gly198Glu	Gly31Glu	-	-	-	COL3A1_00382	AN_003140	EDS IV	Pepin et al., 2014, United States:Seattle	DNA	SEQ	-	-
+/+	08	c.601G>C	-	Substitution	Missense	p.Gly201Arg	Gly34Arg	-	-	-	COL3A1_00008	AN_003141	EDS IV	Smith et al., 1997 Pepin et al., 2014, United States:Seattle	RNA	RT-PCR, SEQ, SSCP	This patient (Sample 2) was also included in the study by Pepin et al., 2000 and has an affected relative (Sample 3) described also in Smith et al., 1997.	-
+/+	08	c.610G>A	-	Substitution	Missense	p.Gly204Ser	Gly37Ser	-	-	-	COL3A1_00009	AN_003142	EDS IV	Collins et al., 1999 Pepin et al., 2014, United States:Seattle	RNA	RT-PCR, SEQ, SSCP	This patient was also included in the study by Pepin et al., 2000.	-
+/+	08	c.611G>A	-	Substitution	Missense	p.Gly204Asp	Gly37Asp	-	-	-	COL3A1_00010	P1	EDS IV	Giunta and Steinmann, 2000	RNA	RNaseT1, RT-PCR, SEQ	The patient's variant was originally described as c.713G>A but that mixes current nomeclature with old cDNA coordinates.	-
+/+	08	c.611G>A	-	Substitution	Missense	p.Gly204Asp	Gly37Asp	-	-	-	COL3A1_00010	AN_003143	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	08	c.615_629dup	-	Duplication	In-frame duplication	-	-	-	-	-	COL3A1_00383	AN_003144	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	08	c.620G>A	-	Substitution	Missense	p.Gly207Glu	Gly40Glu	-	-	-	COL3A1_00694		Vascular EDS	Legrand et al., 2019	DNA	PCR, SEQ	This patient was subsequently described as Index Case Patient 107 (29F)in Henneton et al., 2019	-
+/+	08	c.620G>C	-	Substitution	Missense	p.(Gly207Ala)	Gly40Ala	-	-	-	COL3A1_00668	AN_002594	Vascular EDS	Italy:Brescia	DNA	PCR, SEQ	-	Italian
+/+	08	c.620G>T	-	Substitution	Missense	p.Gly207Val	Gly40Val	-	-	-	COL3A1_00384	AN_003145	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	only mother tested nl	-
+/+	08	c.629G>A	-	Substitution	Missense	p.Gly210Asp	Gly43Asp	-	-	-	COL3A1_00011	P2	EDS IV	Giunta and Steinmann, 2000	RNA	RNaseT1, RT-PCR, SEQ	The patient's variant was originally described as c.731G>A but that mixes current nomeclature with old cDNA coordinates.	-
+/+	08	c.629G>T	-	Substitution	Missense	p.Gly210Val	Gly43Val	-	-	-	COL3A1_00011	AN_003146	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	8	c.631_636+6delins TACTAAATATA	-	Deletion Insertion	Splice site	-	-	-	-	-	COL3A1_00385	AN_003147	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	08i	c.636+1G>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00386	AN_003148	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	affected sib	-
+/+	08i	c.636+5G>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00140	AN_003152	EDS IV	Schwarze et al., 1997 Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	This patient, described as 92-075 by Schwarze et al., 1997, was previously described as Sample 13 by Smith et al., 1997 and was also included in the study by Pepin et al., 2000.	-
+/+	08i	c.636+5G>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00140	AN_003151	EDS IV	Schwarze et al., 1997 Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	This was Patient 94-597 in the study by Schwarze et al., 1997.	-
+/+	08i	c.636+5G>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00140		EDS IV	Pinto et al., 2000	RNA	RT-PCR, SEQ	-	-
+/+	08i	c.636+5G>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00140	AN_003150	EDS IV	Chuman et al., 2002 Pepin et al., 2014, United States:Seattle	DNA	PCR, SEQ	This patient, described by Chuman et al., 2002 as Case 1, was previously described by Lach et al., 1987.	-
+/+	08i	c.636+5G>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00140	AN_002813	Vascular EDS	Morissette et al., 2014, United States:Baltimore	DNA	IHC, SEQ, Western	Patient 13, Male, 27y, arterial event. The patient's sister, Patient 14, AN_002814, also harbours the same variant.	-
+/+	08i	c.636+5G>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00140	AN_003149	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+?	08i	c.636+5_636+6delinsCA	-	Insertion/Deletion	Splice site	-	-	-	-	-	COL3A1_00695		Vascular EDS	Legrand et al., 2019	DNA	PCR, SEQ	This patient was subsequently described in Frank et al., 2019 as patient 93.	-
+/+	09	c.637G>A	-	Substitution	Missense	p.Gly213Ser	Gly46Ser	-	-	-	COL3A1_00387	AN_003153	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	09	c.638G>A	-	Substitution	Missense	p.(Gly213Asp)	Gly46Asp	-	-	-	COL3A1_00333	AN_002948	Vascular EDS	Frank et al., 2015, France:PARIS	DNA	SEQ	This patient was subsequently described in Legrand et al., 2019.	-
+/+	09	c.638G>A	-	Substitution	Missense	p.(Gly213Asp)	Gly46Asp	-	-	-	COL3A1_00333	AN_002583	Vascular EDS	Italy:Brescia	DNA	PCR, SEQ	This is a sporadic case (de novo mutation verified).	Italian
+/+	09	c.647G>A	-	Substitution	Missense	p.Gly216Glu	Gly49Glu	-	-	-	COL3A1_00388	AN_003154	EDS IV	Pepin et al., 2014, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-

1 - 100
[<<] [<-] 1 2 3 4 5 6 ... [->] [>>]

Click here to save this list in a tab-delimited text file.

Legend: [ COL3A1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation Effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. Legacy change: "Traditional" (legacy) amino acid numbering RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. COL3A1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Ethnic origin: Ethnic origin of patient

Ehlers Danlos Syndrome Variant Database

collagen type III alpha 1 chain (COL3A1)

This page is now frozen. No new data will be added. No further corrections will be made.

The COL3A1 mutation data have been added to a new database.