View unique variants - Ehlers Danlos Syndrome Variant Database

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

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The variants below are all in the COL3A1 database. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
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.

737 entries
entries per page

Exon

DNA change

dbSNP

Type

Mutation Effect

Protein

Legacy change

RNA change

Re-site

Frequency

DB-ID


1-52	c.1-?_c.4401+?del	-	Deletion	Multi-exon deletion	-	-	-	-	-	COL3A1_00620
1	c.30G>A	-	Substitution	Nonsense	p.Trp10*	-	-	-	-	COL3A1_00373
02	c.119C>T	-	Substitution	Missense	p.Ala40Val	-	-	-	-	COL3A1_00746
02	c.130G>A	-	Substitution	Missense	p.Val44Ile	-	-	-	-	COL3A1_00587
02	c.145C>G (Reported 4 times)	-	Substitution	Missense	p.Pro49Ala	-	-	-	-	COL3A1_00646
02	c.194_195dup	-	Duplication	Frameshift	p.Ile66*	-	-	-	-	COL3A1_00693
02	c.198A>G	-	Substitution	Missense	p.Ile66Met	-	-	-	-	COL3A1_00631
02	c.202_207del	-	Deletion	In-frame deletion	p.Asp68_Asp69del	-	-	-	-	COL3A1_00340
03	c.318_325del	-	Deletion	Frameshift	p.Pro107Argfs*13	-	-	-	-	COL3A1_00648
04_05	c.370G>C	-	Substitution	Missense	p.(Gly124Arg)	-	-	-	-	COL3A1_00653
04_05	c.413delC	-	Deletion	Frameshift	p.Pro138Leufs*27	-	-	-	-	COL3A1_00125
06	c.479dupT (Reported 2 times)	dbSNP	Duplication	Frameshift	p.Lys161Glnfs*45	-	-	-	-	COL3A1_00078
06	c.505C>T	-	Substitution	Missense	p.Leu169Phe	Leu2Phe	-	-	-	COL3A1_00004
6i	c.528+5G>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00736
07	c.530G>A	-	Substitution	Missense	p.Gly177Asp	Gly10Asp	-	-	-	COL3A1_00588
07	c.531C>A	dbSNP	Substitution	Silent	p.=	-	-	-	-	COL3A1_00183
07	c.536delC	-	Deletion	Frameshift	p.Pro179Glnfs*43	Pro12Glnfs*43	-	-	-	COL3A1_00742
07	c.539G>A (Reported 3 times)	-	Substitution	Missense	p.Gly180Asp	Gly13Asp	-	-	-	COL3A1_00250
07	c.547G>A (Reported 22 times)	-	Substitution	Missense	p.Gly183Ser	Gly16Ser	-	-	-	COL3A1_00006
07	c.547G>C	-	Substitution	Missense	p.Gly183Arg	Gly16Arg	-	-	-	COL3A1_00374
07	c.547G>T	-	Substitution	Missense	p.Gly183Cys	Gly16Cys	-	-	-	COL3A1_00005
07	c.548G>A (Reported 2 times)	-	Substitution	Missense	p.Gly183Asp	Gly16Asp	-	-	-	COL3A1_00001
07	c.548G>C (Reported 2 times)	-	Substitution	Missense	p.Gly183Ala	Gly16Ala	-	-	-	COL3A1_00297
07	c.550C>T	-	Substitution	Missense	p.Pro184Ser	Pro17Ser	-	-	-	COL3A1_00214
07	c.555delT (Reported 3 times)	-	Deletion	Frameshift	p.Gly186Valfs*36	-	-	-	-	COL3A1_00126
07	c.556G>A (Reported 2 times)	-	Substitution	Missense	p.Gly186Ser	Gly19Ser	-	-	-	COL3A1_00330
07	c.565G>C	-	Substitution	Missense	p.Gly189Arg	Gly22Arg	-	-	-	COL3A1_00375
07	c.574G>A	-	Substitution	Missense	p.(Gly192Ser)	Gly25Ser	-	-	-	COL3A1_00674
07	c.575G>A (Reported 3 times)	-	Substitution	Missense	p.Gly192Asp	Gly25Asp	-	-	-	COL3A1_00279
07	c.575G>T	-	Substitution	Missense	p.Gly192Val	Gly25Val	-	-	-	COL3A1_00007
07i	c.582+1G>C (Reported 2 times)	-	Substitution	Splice site	p.Pro178_Gly195del	-	r.529_582del	-	-	COL3A1_00139
07i	c.582+2dupT	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00139
07i	c.582+5G>A (Reported 2 times)	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00377
07i	c.582+5G>T	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00378
07i	c.582+5_+11delinsACA	-	Deletion	Splice site	-	-	-	-	-	COL3A1_00376
07i	c.582+6T>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00379
07i	c.582+6T>C (Reported 2 times)	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00161
07i	c.582+53_798+317delinsATGCAAAATCAAA	-	Insertion/Deletion	In-frame deletion	p.Ser196_Gly267del	-	-	-	-	COL3A1_00127
08	c.583G>A	-	Substitution	Missense	p.Gly195Arg	Gly28Arg	-	-	-	COL3A1_00673
08	c.583G>C (Reported 2 times)	-	Substitution	Missense	p.(Gly195Arg)	Gly28Arg	-	-	-	COL3A1_00380
08	c.592G>A	-	Substitution	Missense	p.Gly198Arg	Gly31Arg	-	-	-	COL3A1_00381
08	c.593G>A	-	Substitution	Missense	p.Gly198Glu	Gly31Glu	-	-	-	COL3A1_00382
08	c.601G>C	-	Substitution	Missense	p.Gly201Arg	Gly34Arg	-	-	-	COL3A1_00008
08	c.610G>A	-	Substitution	Missense	p.Gly204Ser	Gly37Ser	-	-	-	COL3A1_00009
08	c.611G>A (Reported 2 times)	-	Substitution	Missense	p.Gly204Asp	Gly37Asp	-	-	-	COL3A1_00010
08	c.615_629dup	-	Duplication	In-frame duplication	-	-	-	-	-	COL3A1_00383
08	c.620G>A	-	Substitution	Missense	p.Gly207Glu	Gly40Glu	-	-	-	COL3A1_00694
08	c.620G>C	-	Substitution	Missense	p.(Gly207Ala)	Gly40Ala	-	-	-	COL3A1_00668
08	c.620G>T	-	Substitution	Missense	p.Gly207Val	Gly40Val	-	-	-	COL3A1_00384
08	c.629G>A	-	Substitution	Missense	p.Gly210Asp	Gly43Asp	-	-	-	COL3A1_00011
08	c.629G>T	-	Substitution	Missense	p.Gly210Val	Gly43Val	-	-	-	COL3A1_00011
8	c.631_636+6delins TACTAAATATA	-	Deletion Insertion	Splice site	-	-	-	-	-	COL3A1_00385
08i	c.636+1G>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00386
08i	c.636+5G>A (Reported 6 times)	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00140
08i	c.636+5_636+6delinsCA	-	Insertion/Deletion	Splice site	-	-	-	-	-	COL3A1_00695
09	c.637G>A	-	Substitution	Missense	p.Gly213Ser	Gly46Ser	-	-	-	COL3A1_00387
09	c.638G>A (Reported 2 times)	-	Substitution	Missense	p.(Gly213Asp)	Gly46Asp	-	-	-	COL3A1_00333
09	c.647G>A (Reported 2 times)	-	Substitution	Missense	p.Gly216Glu	Gly49Glu	-	-	-	COL3A1_00388
09	c.647G>C	-	Substitution	Missense	p.Gly216Ala	Gly49Ala	-	-	-	COL3A1_00281
09	c.649_1663-86del	-	Deletion	In-frame deletion	p.Gly212_Pro554del	-	-	-	-	COL3A1_00128
09	c.655G>T	-	Substitution	Missense	p.Gly219Cys	Gly52Cys	-	-	-	COL3A1_00012
09	c.656G>A (Reported 2 times)	-	Substitution	Missense	p.Gly219Asp	Gly52Asp	-	-	-	COL3A1_00390
09	c.656G>C	-	Substitution	Missense	p.Gly219Ala	Gly52Ala	-	-	-	COL3A1_00389
09	c.665G>A (Reported 5 times)	-	Substitution	Missense	p.Gly222Asp	Gly55Asp	-	-	-	COL3A1_00211
09	c.665G>T (Reported 2 times)	-	Substitution	Missense	p.Gly222Val	Gly46Val	-	-	-	COL3A1_00301
09	c.673G>A	-	Substitution	Missense	p.Gly225Ser	Gly58Ser	-	-	-	COL3A1_00696
09	c.674G>A	-	Substitution	Missense	p.Gly225Asp	Gly58Asp	-	-	-	COL3A1_00259
09	c.674G>C	-	Substitution	Missense	p.Gly225Ala	Gly58Ala	-	-	-	COL3A1_00391
09	c.674G>T	-	Substitution	Missense	p.Gly225Val	Gly58Val	-	-	-	COL3A1_00013
09	c.682G>C	-	Substitution	Missense	p.Gly228Arg	Gly61Arg	-	-	-	COL3A1_00392
09	c.683G>A (Reported 2 times)	-	Substitution	Missense	p.Gly228Glu	Gly61Glu	-	-	-	COL3A1_00014
09i	c.690+1G>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00141
09i	c.690+1G>T	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00314
09i	c.690+2T>A	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00142
09i	c.690+2T>G	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00143
09i	c.691-2A>G	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00162
10	c.692G>A (Reported 2 times)	-	Substitution	Missense	p.Gly231Glu	Gly64Glu	-	-	-	COL3A1_00329
10	c.701G>A	-	Substitution	Missense	p.Gly234Asp	Gly67Asp	-	-	-	COL3A1_00393
10	c.709G>A (Reported 7 times)	-	Substitution	Missense	p.Gly237Arg	Gly70Arg	-	-	-	COL3A1_00260
10	c.718G>C	-	Substitution	Missense	p.Gly240Arg	Gly73Arg	-	-	-	COL3A1_00015
10	c.719G>C	-	Substitution	Missense	p.Gly240Ala	Gly73Ala	-	-	-	COL3A1_00628
10	c.719G>T	-	Substitution	Missense	p.Gly240Val	Gly73Val	-	-	-	COL3A1_00623
10	c.721G>A (Reported 3 times)	-	Substitution	Missense	p.Glu241Lys	Glu74Lys	-	-	-	COL3A1_00589
10	c.728G>A	-	Substitution	Missense	p.Gly243Glu	Gly76Glu	-	-	-	COL3A1_00394
10	c.728G>T	-	Substitution	Missense	p.Gly243Val	Gly76Val	-	-	-	COL3A1_00016
10	c.737G>A (Reported 2 times)	-	Substitution	Missense	p.Gly246Glu	Gly79Glu	-	-	-	COL3A1_00395
10i	c.744+1G>A (Reported 2 times)	-	Substitution	Splice site	-	-	-	-	-	COL3A1_00621
11-14	c.(744+1_799-1)_(996+1_1150-1)del	-	Deletion	Multi-exon deletion	-	-	-	-	-	COL3A1_00663
11	c.745G>A	-	Substitution	Missense	p.Gly249Ser	Gly82Ser	-	-	-	COL3A1_00697
11	c.746G>A (Reported 2 times)	-	Substitution	Missense	p.Gly249Asp	Gly82Asp	-	-	-	COL3A1_00017
11	c.746G>T	-	Substitution	Missense	p.Gly249Val	Gly82Val	-	-	-	COL3A1_00018
11	c.750delCinsAA	-	Insertion/Deletion	Frameshift	p.(Gly252Argfs*26)	-	-	-	-	COL3A1_00667
11	c.754G>C	-	Substitution	Missense	p.Gly252Arg	Gly85Arg	-	-	-	COL3A1_00019
11	c.755G>A (Reported 2 times)	-	Substitution	Missense	p.Gly252Asp	Gly85Asp	-	-	-	COL3A1_00020
11	c.755G>T (Reported 14 times)	-	Substitution	Missense	p.Gly252Val	Gly85Val	-	-	-	COL3A1_00021
11	c.764G>A	-	Substitution	Missense	p.Gly255Glu	Gly88Glu	-	-	-	COL3A1_00396
11	c.764G>T (Reported 2 times)	-	Substitution	Missense	p.Gly255Val	Gly88Val	-	-	-	COL3A1_00022
11	c.766delA (Reported 2 times)	-	Deletion	Frameshift	p.Ile256Tyrfs*7	-	-	-	-	COL3A1_00232
11	c.773G>C	-	Substitution	Missense	p.Gly258Ala	Gly91Ala	-	-	-	COL3A1_00726
11	c.781G>A	-	Substitution	Missense	p.Gly261Ser	Gly94Ser	-	-	-	COL3A1_00023

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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.
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.

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.