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The COL5A1 mutation data have been added to a new database.

LOVD - Variant listings for COL5A1

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+/+ 03 c.466delC - Deletion Frameshift p.(Arg156Glyfs*24) - - - COL5A1_00022 EDS37 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCP The variant in this patient is incorrectly described as leading to p.R155fsX24. -
+/+ 05-06 c.(654+1_655-1)_(924+1_925-1)del - Deletion Multi-exon deletion - - - - COL5A1_00194 AN_002563 Classical EDS Italy:Brescia DNA MLPA, PCR, SEQ For MLPA analyses the P331-B1 and P332-B1 probemixes from MRC Holland were used. The probemixes contain one probe for each exon of the COL5A1 gene with the exception of exons 12, 26, 33, 36, 39, 49, 54, 59 and 66. Italian
+/+ 07 c.944delC - Deletion Frameshift p.Thr315Argfs*243 - - - COL5A1_00253 Classical EDS Wardeh et al., 2018 DNA SEQ, WES - Afro-Caribbean
+/+ 07 c.1053_1063del - Deletion Frameshift p.(Tyr352Hisfs*44) - - - COL5A1_00111 AN_001906 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+ 08 c.1293del - Deletion Frameshift p.(Pro432Argfs*126) - - - COL5A1_00112 AN_001907 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+ 10 c.1418del - Deletion Frameshift p.(Pro473Glnfs*85) - - - COL5A1_00114 AN_001909 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+ 12 c.1502del - Deletion Frameshift p.(Pro501Leufs*57) - - - COL5A1_00117 AN_001912 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+ 13 c.1601delC - Deletion Frameshift p.(Gly536Alafs*22) - - - COL5A1_00067 P-32 Classical EDS Viglio et al., 2008 DNA, RNA RT-PCR, SEQ - -
+/+ 18 c.1884_1891del - Deletion Frameshift p.Asp629Phefs*16 - - - COL5A1_00251 Patient 9 EDS Grelet et al., 2019 DNA CNGP, PCR, SEQ - -
+/+ 18 c.1906del - Deletion Frameshift p.(Ala636Leufs*168) - - - COL5A1_00118 AN_001913 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+ 19 c.1943delC - Deletion Frameshift p.(Pro648Leufs*156) - - - COL5A1_00102 AN_001705 EDS I Italy:Bologna DNA hrMCA, SEQ - -
+/+ 20 c.2014del - Deletion Frameshift p.(Arg672Glyfs*132) - - - COL5A1_00119 AN_001914 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+ 22 c.2903delC - Deletion Frameshift p.Pro968Leufs*106 - - - COL5A1_00188 AN_005302 Classical EDS Weerakkody et al., 2016, Imperial College London, UK DNA HTS skin hyperextensibility, slow wound healing, formation of atrophic scars and keloid Patient ID 31. Afro-caribbean
+/+ 27i c.2385+263_2430+908del - Deletion Exon deletion p.(Ala797_Gly811del) - - - COL5A1_00122 AN_001917 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA, RNA RT-PCR, SEQ mRNA analysis confirms skipping of exon 28. The protein-level variant description is incorrectly reported as p.(Gly796_Lys810del). This patient was previously described as mutation-negative in the study of Malfait et al., 2005. -
+/+ 28 c.2389del - Deletion Frameshift p.(Ala797Profs*7) - - - COL5A1_00123 AN_001918 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+ 30 c.2552_2553del - Deletion Frameshift p.(Pro851Glnfs*3) - - - COL5A1_00100 AN_001703 EDS I Italy:Bologna DNA hrMCA, SEQ - -
+/+ 32 c.2657delG - Deletion Frameshift p.(Gly886Aspfs*188) - - - COL5A1_00066 P-24 Classical EDS Viglio et al., 2008 DNA, RNA RT-PCR, SEQ - -
+/+ 34 c.2757_2774delinsA - Insertion/Deletion Frameshift p.(Glu920Hisfs*14) - - - COL5A1_00153 AN_002510 Classical EDS Ritelli et al., 2013, Italy:Brescia DNA PCR, SEQ This is a sporadic case (de novo mutation verified). The authors' DNA-level variant description is not HGVS nomenclature compliant. Italian
+/+ 37i c.2952+2_2952+3del - Deletion Exon skip p.(Gly967_Thr984del) - - - COL5A1_00155 AN_002512 Classical EDS Ritelli et al., 2013, Italy:Brescia DNA PCR, SEQ Mother of affected individual AN_002513. Italian
+/+ 38 c.2988del - Deletion Frameshift p.(Gly997Alafs*77) - - - COL5A1_00156 AN_002514 Classical EDS Ritelli et al., 2013, Italy:Brescia DNA PCR, SEQ This is a sporadic case (de novo mutation verified). Italian
+/+ 38 c.2988del - Deletion Frameshift p.(Gly997Alafs*77) - - - COL5A1_00156 AN_002515 Classical EDS Ritelli et al., 2013, Italy:Brescia DNA PCR, SEQ This is a sporadic case (de novo mutation verified). Italian
+/+ 38 c.2988del - Deletion Frameshift p.(Gly997Alafs*77) - - - COL5A1_00156 AN_002539 Classical EDS Italy:Brescia DNA PCR, SEQ - Italian
+/+ 39 c.3110del - Deletion Frameshift p.(Thr1037Argfs*37) - - - COL5A1_00024 EDS47 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCP The variant in this patient is incorrectly described as leading to p.T1037fsX36. -
+/+ 40 c.3181del - Deletion Frameshift p.(Asp1061Thrfs*13) - - - COL5A1_00178 AN_002554 Classical EDS Italy:Brescia DNA PCR, SEQ This a sporadic case of classical EDS (de novo mutation verified). Italian
+/+ 41i c.3258+33_3366+689delins115 - Insertion/Deletion Exon deletion p.(Gly1087_Pro1122del) - - - COL5A1_00131 AN_001926 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA, RNA RT-PCR, SEQ mRNA analysis reveals skipping of exon 42. The variant presented here is the undetected variant in family 2 described by De Paepe et al., 1997. -
+/+ 42 c.3325_3334del - Deletion Frameshift p.(Pro1112Argfs*161) - - - COL5A1_00015 EDS8 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCP The variant in this patient is incorrectly described as leading to p.1109_1121delfs . -
+/+ 42i c.3367-2_3367-1delinsCA - Insertion/Deletion Splice site - - - - COL5A1_00213 AN_002598 Classical EDS Italy:Brescia DNA CNGP This is a sporadic case (de novo mutation verified). Italian
+/+ 43 c.3415_3416delinsG - Insertion/Deletion Frameshift p.(Pro1139Valfs*137) - - - COL5A1_00174 AN_002548 Classical EDS Italy:Brescia DNA PCR, SEQ Sister of affected individual AN_002549 and daughter of affected individual AN_002550. Italian
+/+ 47 c.3730_3731del - Deletion Frameshift p.(Asp1244Argfs*22) - - - COL5A1_00037 EDS8 Classical EDS Wenstrup et al., 2000 DNA, RNA PAGE, PCR, RT-PCR, HA The variant is incorrectly described by Wenstrup et al. with respect to the reference sequence with accession number M76729. This patient is described as proband A-II-I in Segev et al., 2006. -
?/- 48 c.3746delG dbSNP Deletion Frameshift p.(Gly1249Alafs*27) - - - COL5A1_00080 - - dbSNP Unknown Unknown The dbSNP entry is rather muddled for this variant. In addition, a single base deletion would be expected to be pathogenic. -
+/+ 48 c.3752delC - Deletion Frameshift p.(Pro1251Argfs*25) - - - COL5A1_00030 P1 Classical EDS Schwarze et al., 2000 DNA, RNA PCR, SEQ, HA, SSCP - -
+/+ 49 c.3887delC - Deletion Frameshift p.(Pro1296Argfs*192) - - - COL5A1_00033 P10 Classical EDS Schwarze et al., 2000 DNA, RNA PCR, SEQ, HA, SSCP - -
+/+ 49 c.3905del - Deletion Frameshift p.(Pro1302Argfs*186) - - - COL5A1_00180 AN_002558 Classical EDS Italy:Brescia DNA PCR, SEQ This is a sporadic case of classic EDS (de novo mutation verified). Italian
+/+ 51 c.4050del - Deletion Frameshift p.(Gly1351Glufs*137) - - - COL5A1_00216 AN_006206 Classical EDS Italy:Brescia DNA CNGP This is a sporadic case (de novo mutation verified). Italian
+/+ 53 c.4148delC - Deletion Frameshift p.(Pro1383Glnfs*105) - - - COL5A1_00032 P6 Classical EDS Schwarze et al., 2000 DNA, RNA PCR, SEQ, HA, SSCP - -
+/+ 55 c.4291_4292del - Deletion Frameshift p.(Pro1431Trpfs*50) - - - COL5A1_00019 EDS17 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCP The published description of the variant at the protein level is incomplete. -
+/+ 55 c.4293del - Deletion Frameshift p.(Lys1433Serfs*55) - - - COL5A1_00068 - Classical EDS Mátyás et al., 2002 DNA, RNA PCR, RT-PCR The reference sequence which was used in this article for COL5A1 was M76729. -
+/+ 55i c.4339-1G>A - Deletion Splice site p.(Gly1447Glufs*40) - - - COL5A1_00012 EDS1 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, RT-PCR, SEQ, CSGE, SSCP The authors report that this variant creates a new splice acceptor with a frameshift and PTC at codon 1488. -
+/+ 55i c.4339-1G>A - Deletion Splice site p.(Gly1447Glufs*40) - - - COL5A1_00012 Patient 1 Classical EDS Pallotta et al., 2004, Belgium:Ghent DNA, RNA PCR, RT-PCR, SEQ Analysis of cDNA indicates that the effect of this variant is equivalent to deletion of the first base of exon 56 so the consequence is a null allele resulting from a frameshift. -
+/+ 56 c.4383del - Deletion Frameshift p.(Gly1462Alafs*26) - - - COL5A1_00179 AN_002555 Classical EDS Italy:Brescia DNA PCR, SEQ This is a classical EDS patient, daugther of affected individual AN_002556. Italian
+/+ 56 c.4383delC - Deletion Frameshift p.(Gly1462Alafs*26) - - - COL5A1_00017 EDS14 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCP The variant in this patient is incorrectly described as leading to p.P1461fsX27 . -
+/+ 57 c.4414del - Deletion Frameshift p.Leu1472Serfs*16 - - - COL5A1_00250 Patient 1 Classical EDS Angwin et al., 2019 DNA PCR, SEQ Relatives were healthy with no features of cEDS, one brother tested for the COL5A1 variant tested negative. -
+/+ 62 c.4714del - Deletion Frameshift p.(Val1572Serfs*47) - - - COL5A1_00160 AN_002527 Classical EDS Ritelli et al., 2013, Italy:Brescia DNA PCR, SEQ This is a sporadic case (de novo mutation verified). Italian
+/+ 62 c.4723_4745del - Deletion Frameshift p.(Pro1575Aspfs*41) - - - COL5A1_00200 AN_002573 Classical EDS Italy:Brescia DNA PCR, SEQ - Italian
+/+ 62 c.4916_4931del - Deletion Frameshift p.(Cys1639Serfs*85) - - - COL5A1_00006 P8 Classical EDS Mitchell et al., 2009 DNA, RNA PCR, RT-PCR, SEQ, HA - -
+/+ 62 c.4919_4928del - Deletion Frameshift p.(Lys1640Serfs*86) - - - COL5A1_00161 AN_002528 Classical EDS Ritelli et al., 2013, Italy:Brescia DNA PCR, SEQ Twin of affected individual AN_002529. Italian
+/+? 63 c.5021_5021delC - Deletion Frameshift p.Thr1674Lysfs*55 - - - COL5A1_00224 069 EDS I Poland:Bydgoszcz DNA SEQ - -
+/+ 64-65 c.(5067+1_5068-1)_(5370+?)del - Deletion Multi-exon deletion - - - - COL5A1_00195 AN_002564 Classical EDS Italy:Brescia DNA MLPA, PCR, SEQ For MLPA analyses the P331-B1 and P332-B1 probemixes from MRC Holland were used. The probemixes contain one probe for each exon of the COL5A1 gene with the exception of exons 12, 26, 33, 36, 39, 49, 54, 59 and 66. Italian
+/+ 65 c.5287del - Deletion Frameshift p.(Ala1763Profs*104) - - - COL5A1_00211 AN_002595 Classical EDS Italy:Brescia DNA PCR, SEQ Mother of affected individual AN_002596 and sister of affected individual AN_002597. Italian
+/+ 65 c.5298_5315del - Deletion In-frame deletion/insertion p.(Phe1766_Glu1772delinsLeu) - - - COL5A1_00143 AN_001943 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+ 65i c.5370+3_5370+6del - Deletion Splice site - - - - COL5A1_00036 Family A EDS I Wenstrup et al., 1996 DNA, RNA PAGE, PCR, SEQ, CSGE, HA The variant resulst in skipping of exon 65. -
+/+ 66 c.5458_5459del - Deletion Frameshift p.(Phe1820Argfs*2) - - - COL5A1_00163 AN_002532 Classical EDS Ritelli et al., 2013, Italy:Brescia DNA PCR, SEQ This is a sporadic case (de novo mutation verified) Moroccan
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Legend: [ COL5A1 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. 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. COL5A1 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