LOVD - Variant listings for COL5A1

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+/+ 01-11 chr9.hg19:g.(137,440,166_137,442,686)_(137,633,699_137,638,368)dup - Duplication Other - - - - COL5A1_00164 AN_002535 Classical EDS Ritelli et al., 2013, Italy:Brescia DNA MLPA, PCR, SEQ Brother of affected individual AN_002536 and son of affected individual AN_002537. Italian
?/- 01 c.66G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00069 - - dbSNP Unknown Unknown - -
+/+ 01 c.74T>C - Substitution Missense p.(Leu25Pro) - - - COL5A1_00051 Classical EDS Symoens et al., 2009, Belgium:Ghent DNA, RNA PAGE, PCR, RT-PCR, SEQ - Caucasian
+/+ 01 c.74T>G - Substitution Missense p.(Leu25Arg) - - - COL5A1_00050 Classical EDS Symoens et al., 2009, Belgium:Ghent DNA, RNA PAGE, PCR, RT-PCR, SEQ - Caucasian
+/+ 01 c.87G>A - Substitution Nonsense p.(Trp29*) - - - COL5A1_00147 AN_002501 Classical EDS Ritelli et al., 2013, Italy:Brescia DNA PCR, SEQ This is a sporadic case (de novo mutation verified). Italian
+/+ 02 c.160G>T - Substitution Nonsense p.(Gly54*) - - - COL5A1_00106 AN_001901 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+? 02 c.193C>T
    + c.514G>T
- Substitution Missense p.Arg65Trp - - - COL5A1_00203 011 EDS I Poland:Bydgoszcz DNA SEQ The patient's father harbours the same two sequence variants and has the same clinical picture. This is suggestive, but not conclusive, evidence that the EDS I phenotype is the result of the variants. Caucasian
+/+ 02 c.196C>T - Substitution Nonsense p.(Arg66*) - - - COL5A1_00175 AN_002551 Classical EDS Italy:Brescia DNA PCR, SEQ This is a sporadic case (de novo mutation verified). Italian
+/+ 02i c.277+1G>T - Substitution Splice site - - - COL5A1_00039 EDS82 Classical EDS Wenstrup et al., 2000 DNA, RNA PAGE, PCR, RT-PCR, HA The variant results in the skipping of exon 2. -
+/+ 02i c.278-2A>C - Substitution Splice site - - - - COL5A1_00210 AN_002575 Classical EDS Italy:Brescia DNA PCR, SEQ Father of affected individual AN_002576. Italian
?/- 03 c.278C>T dbSNP Substitution Missense p.(Ala93Val) - - - COL5A1_00070 - - dbSNP Unknown Unknown - -
+/+? 03 c.311C>G - Substitution Missense p.(Thr104Arg) - - - COL5A1_00193 AN_002561 Classical EDS Italy:Brescia DNA, RNA PCR, RT-PCR, SEQ This is a sporadic case (de novo mutation verified). Italian
+/+? 03 c.311C>G - Substitution Missense p.(Thr104Arg) - - - COL5A1_00193 Classical EDS Savasta et al., 2015 DNA Unknown The proband presented with unilateral periventricular heterotopia and epilepsy. Details of the COL5A1 variant are not presented in the paper but were provided post-publication by the authors. -
+/+ 03 c.379C>T - Substitution Nonsense p.(Gln127*) - - - COL5A1_00107 AN_001902 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+ 03 c.379C>T - Substitution Nonsense p.(Gln127*) - - - COL5A1_00107 Classical EDS Morais et al., 2013 DNA SEQ The variant is said to segregate with the EDS phenotype in the proband and in two earlier generations. However, the description of the proband's parents as "healthy" appears contradictory. -
+/+ 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. -
+/+ 03i c.491+2T>G
    + c.1588G>A
- Substitution Splice site - - - - COL5A1_00029 EDS48 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCP The c.1588G>A variant is recorded in dbSNP and in other variant databases at a frequency suggesting that it is not disease-causing. The splice site variant results in skipping of exon 3 which results in a frameshift. -
+/+ 04 c.495G>A - Substitution Nonsense p.(Trp165*) - - - COL5A1_00004 P5 Classical EDS Mitchell et al., 2009 DNA, RNA PCR, RT-PCR, SEQ, HA - -
+/-? 04 c.514G>T
    + c.193C>T
- Substitution Missense p.Val172Phe - - - COL5A1_00204 011 EDS I Poland:Bydgoszcz DNA SEQ The patient's father harbours the same two sequence variants and has the same clinical picture. This is suggestive, but not conclusive, evidence that the EDS I phenotype is the result of the variants. Caucasian
+/+? 04 c.532A>C - Substitution Missense p.(Thr178Pro) - - - COL5A1_00148 AN_002502 Classical EDS Ritelli et al., 2013, Italy:Brescia DNA PCR, SEQ This is a sporadic case (de novo mutation verified). Italian
+/+ 04 c.554dupA - Duplication Frameshift p.(Lys186Glufs*29) - - - COL5A1_00108 AN_001903 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+?/-? 04 c.574G>A - Substitution Missense p.(Asp192Asn) - - - COL5A1_00053 - Classical EDS Grond-Ginsbach et al., 1999 DNA, RNA PCR, RT-PCR, SSCP The variant was found in siblings who are also described as Family III in Martin et al., 2006. In that later study, the variant was also detected in 2 of 150 healthy control patients. This is strong evidence that it is not disease-causing. -
+/+ 04i c.655-2A>G - Substitution Splice site - - - - COL5A1_00048 - EDS I Takahara et al., 2002 DNA, RNA PAGE, PCR, RT-PCR, SEQ, Southern, Cloning The major outcome of this variant is skipping of exons 5 and 6. -
+/+ 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
+/+ 05 c.664C>T - Substitution Nonsense p.(Gln222*) - - - COL5A1_00016 EDS13 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCP - -
+/+ 05 c.701_702dup - Duplication Frameshift p.(Asp235Metfs*53) - - - COL5A1_00110 AN_001905 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
-/- 05 c.738C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00055 - - Grond-Ginsbach et al., 1999 DNA, RNA PCR, RT-PCR, SSCP This variant was described as being at position 864 with respect to the reference sequence with accession number D90279. -
+/+ 05 c.757C>T - Substitution Nonsense p.(Gln253*) - - - COL5A1_00197 AN_005316 Classical EDS Weerakkody et al., 2016, Imperial College London, UK DNA HTS Patient ID 429 Caucasian
+/+ 06 c.831C>A - Substitution Nonsense p.(Tyr277*) - - - COL5A1_00190 AN_005324 Classical EDS Weerakkody et al., 2016, Imperial College London, UK DNA HTS Patient ID 627. Caucasian
+/+ 06i c.925-2A>G - Substitution Splice site - - - - COL5A1_00099 Classical EDS Symoens et al., 2011, Belgium:Ghent DNA, RNA PCR, RT-PCR, SEQ The patient's phenotype is described as a severe form of EDS with severe kyphoscoliosis and eye involvement. The sequence variant adjacent to exon 7 also affects splicing of exon 6. mRNA analysis reveals skipping of exon 6 alone and of exons 6 and 7 together. -
+/+ 06i c.925-1G>C - Substitution Splice site p.[Tyr263_Glu338del;Tyr263_Asn388del] - - - COL5A1_00109 AN_001904 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA, RNA RT-PCR, SEQ mRNA analysis reveals skipping of exon 6 alone and of exons 6 and 7 together. -
+/+ 07 c.1041C>G - Substitution Nonsense p.(Tyr347*) - - - COL5A1_00168 AN_002543 Classical EDS Italy:Brescia DNA PCR, SEQ This is a sporadic case (de novo mutation verified). Italian
+/+ 07 c.1053_1063del - Deletion Frameshift p.(Tyr352Hisfs*44) - - - COL5A1_00111 AN_001906 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
?/- 07 c.1062C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00071 - - dbSNP Unknown Unknown - -
-/- 07 c.1092C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00054 - - Grond-Ginsbach et al., 1999 DNA, RNA PCR, RT-PCR, SSCP This variant was described as being at position 1218 with respect to the reference sequence with accession number D90279. -
-?/-? 07 c.1115C>A - Substitution Missense p.(Ala372Asp) - - - COL5A1_00192 Patient 9 TAAD Ziganshin et al., 2015 DNA WES The variant in this patient is described as being of "Unknown significance". -
?/- 07 c.1158C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00072 - - dbSNP Unknown Unknown - -
+/+ 07i c.1165-2A>G - Substitution Splice site p.(Pro389Leufs*168) - - - COL5A1_00149 AN_002503 Classical EDS Ritelli et al., 2013, Italy:Brescia DNA PCR, SEQ Father of affected individuals AN_002504 and AN_002505. The splice site variant is predicted, in silico, to result in activation of a cryptic site 4 bases downstream with the effective loss of the first 4 bases of exon 8 and a frameshift as a consequence. This prediction has not been tested in vitro. Italian
+/+ 08 c.1293del - Deletion Frameshift p.(Pro432Argfs*126) - - - COL5A1_00112 AN_001907 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+ 9 c.1360C>T - Substitution Nonsense p.(Gln454*) - - - COL5A1_00105 AN_001707 Classical EDS Italy:Bologna DNA SEQ - -
?/- 09 c.1383C>T dbSNP Substitution Silent p.(=) - - - COL5A1_00073 - - dbSNP Unknown Unknown - -
+/+ 10 c.1402G>T - Substitution Nonsense p.(Glu468*) - - - COL5A1_00113 AN_001908 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ This patient was previously described as mutation-negative in the study of Malfait et al., 2005. -
+/+ 10 c.1418del - Deletion Frameshift p.(Pro473Glnfs*85) - - - COL5A1_00114 AN_001909 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+ 10 c.1424G>A - Substitution Missense p.(Gly475Asp) - - - COL5A1_00115 AN_001910 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
?/- 10 c.1431G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00074 - - dbSNP Unknown Unknown - -
+/+ 11 c.1477G>A - Substitution Missense p.(Gly493Arg) - - - COL5A1_00116 AN_001911 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 - -
+/+ 12 c.1532G>T - Substitution Missense p.(Gly511Val) - - - COL5A1_00169 Classical EDS Yasuda et al., 2013 DNA SEQ The patient presented with a ruptured superior mesenteric artery. -
+/+ 12 c.1541dup - Duplication Frameshift p.(Pro515Serfs*101) - - - COL5A1_00173 AN_002547 Classical EDS Italy:Brescia DNA PCR, SEQ This is a sporadic case (de novo mutation verified). Italian
?/- 12 c.1566G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00075 - - dbSNP Unknown Unknown - -
+/-? 13 c.1588G>A dbSNP Substitution Missense p.(Gly530Ser) - - - COL5A1_00026 EDS10 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCP This variant is recorded in dbSNP and in other variant databases at a frequency suggesting that it is not disease-causing. -
+/-? 13 c.1588G>A
    + c.3450dupT
dbSNP Substitution Missense p.(Gly530Ser) - - - COL5A1_00026 EDS3 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCP The duplication variant in this patient is incorrectly described as an insertion (c.3450_3451insT) and the resulting frameshift is also incorrectly described as p.P1151fsX47. The c.1588G>A variant is recorded in dbSNP and in other variant databases at a frequency suggesting that it is not disease-causing. -
+/-? 13 c.1588G>A
    + c.3184C>T
dbSNP Substitution Missense p.(Gly530Ser) - - - COL5A1_00026 EDS9 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCP The c.1588G>A variant is recorded in dbSNP and in other variant databases at a frequency suggesting that it is not disease-causing. -
+/-? 13 c.1588G>A
    + c.491+2T>G
dbSNP Substitution Missense p.(Gly530Ser) - - - COL5A1_00026 EDS48 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCP The c.1588G>A variant is recorded in dbSNP and in other variant databases at a frequency suggesting that it is not disease-causing. The splice site variant results in skipping of exon 3 which results in a frameshift. -
-?/-? 13 c.1588G>A
    + c.4466G>A
dbSNP Substitution Missense p.(Gly530Ser) - - - COL5A1_00026 G.K. Classical EDS Giunta et al., 2000 DNA, RNA PCR, RT-PCR, SEQ, RNaseA, RNaseT1 The patient's mother and daughter, both of whom are unaffected, each harbour the p.Gly530Ser variant, suggesting that the variant is not disease-causing. However, the variant may modify the disease phenotype. The c.1588G>A (p.Gly530Ser) variant is recorded in dbSNP -
+/-? 13 c.1588G>A
    + c.1588G>A
dbSNP Substitution Missense p.(Gly530Ser) - - - COL5A1_00026 C.B. Classical EDS Giunta et al., 2002 DNA, RNA PCR, RT-PCR, SEQ, CSGE, SSCP In a previous article by the same authors (Giunta et al., 2000), the p.Gly530Ser variant was described as disease-modifying in the heterozygous state. In this study, in which the parents were first cousins, the authors suggest that the homozygous state is disease causing. However, the c.1588G>A variant is recorded in dbSNP and in other variant databases at a frequency suggesting that it is not disease-causing. Turkish
+/+ 13 c.1601delC - Deletion Frameshift p.(Gly536Alafs*22) - - - COL5A1_00067 P-32 Classical EDS Viglio et al., 2008 DNA, RNA RT-PCR, SEQ - -
+/+ 13 c.1651C>T - Substitution Nonsense p.(Gln551*) - - - COL5A1_00150 AN_002506 Classical EDS Ritelli et al., 2013, Italy:Brescia DNA PCR, SEQ This is a sporadic case (de novo mutation verified). Italian
+/+ 13 c.1654C>T - Substitution Nonsense p.(Gln552*) - - - COL5A1_00005 P6 Classical EDS Mitchell et al., 2009 DNA, RNA PCR, RT-PCR, SEQ, HA - -
+/+ 13i c.1663-11T>A - Substitution Splice site - - - - COL5A1_00045 P16 Classical EDS Schwarze et al., 2000 DNA, RNA PCR, SEQ, HA, SSCP This variant results in the skipping of exon 15. -
+/+ 13i c.1663-2A>G - Substitution Splice site - - - - COL5A1_00044 III-3 EDS II Bouma et al., 2001 DNA, RNA PCR, RT-PCR, SEQ, Cloning The variant is incorrectly described in the review by Malfait and De Paepe, 2005 as c.1570-2A>G. -
+/+ 14 c.1670dupT - Duplication Frameshift p.(Arg558Glufs*58) - - - COL5A1_00187 AN_005334 Classical EDS Weerakkody et al., 2016, Imperial College London, UK DNA HTS Patient ID 1129. The variant in this patient was incorrectly reported as p.Leu557fsX Caucasian
+/+ 16 c.1780C>T - Substitution Nonsense p.(Arg594*) - - - COL5A1_00018 EDS15 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCP - -
+/+ 16 c.1780C>T - Substitution Nonsense p.(Arg594*) - - - COL5A1_00018 EDS20 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCP - -
+/+ 17 c.1855G>T - Substitution Nonsense p.(Gly619*) - - - COL5A1_00014 EDS7 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCP - -
+/+ 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 - -
+/+ 19i c.1989+1G>A - Substitution Splice site - - - - COL5A1_00007 P9 Classical EDS Mitchell et al., 2009 DNA, RNA PCR, RT-PCR, SEQ, HA - -
+/+ 19i c.1989+1G>A - Substitution Splice site - - - - COL5A1_00007 AN_002557 Classical EDS Italy:Brescia DNA PCR, SEQ - Italian
+/+ 20 c.2014del - Deletion Frameshift p.(Arg672Glyfs*132) - - - COL5A1_00119 AN_001914 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
?/- 20 c.2031G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00076 - - dbSNP Unknown Unknown - -
+/+ 20i c.2034+1G>A - Substitution Splice site - - - - COL5A1_00101 AN_001704 EDS I Italy:Bologna DNA hrMCA, SEQ - -
+?/+ 20i c.2034+1G>T - Substitution Splice site - - - - COL5A1_00186 AN_005321 Classical EDS Weerakkody et al., 2016, Imperial College London, UK DNA HTS Clinically, Classical EDS with multiple cauliflower fibres on EM and reduced collagen V on collagen biochemistry (SDS-PAGE). Patient ID 582. Caucasian
+/+ 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
+/+ 23 c.2159dup - Duplication Frameshift p.(Gly721Argfs*5) - - - COL5A1_00120 AN_001915 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+ 23 c.2185C>T - Substitution Nonsense p.(Gln729*) - - - COL5A1_00166 Classical EDS Mehta et al., 2012 DNA SEQ The patient is described as having a dissected iliac artery & iatrogenic dissection of the contralateral artery. The variant was also detected in the proband's daughter. It is a nonsense variant and not a frameshift as described in the paper. Caucasian
+/+ 27 c.2374C>T - Substitution Nonsense p.(Arg792*) - - - COL5A1_00040 EDS53 Classical EDS Wenstrup et al., 2000 DNA, RNA PAGE, PCR, RT-PCR, HA The variant is incorrectly described with respect to the reference sequence with accession number M76729. -
+/+ 27i c.2385+1G>A - Substitution Splice site - - - - COL5A1_00121 AN_001916 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+ 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.2386-1G>A - Substitution Splice site - - - - COL5A1_00008 P10 Classical EDS Mitchell et al., 2009 DNA, RNA PCR, RT-PCR, SEQ, HA - -
+/+ 28 c.2389del - Deletion Frameshift p.(Ala797Profs*7) - - - COL5A1_00123 AN_001918 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+ 28i c.2430+1G>A - Substitution Splice site - - - - COL5A1_00038 EDS43 Classical EDS Wenstrup et al., 2000 DNA, RNA PAGE, PCR, RT-PCR, HA The variant results in retention of 178 bases of intron 28 which contains a stop codon, terminating translation. -
+/+? 29 c.2436A>T - Substitution Missense p.(Glu812Asp) - - - COL5A1_00151 AN_002507 Classical EDS Ritelli et al., 2013, Italy:Brescia DNA PCR, SEQ Daughter of affected individual AN_002508. Italian
?/+ 30 c.2531G>C dbSNP Substitution Missense p.(Gly844Ala) - - - COL5A1_00077 - - dbSNP Unknown Unknown This variant, which is predicted to be disease-causing, appears in dbSNP but has not been reported in any any patient. -
+/+ 30 c.2552_2553del - Deletion Frameshift p.(Pro851Glnfs*3) - - - COL5A1_00100 AN_001703 EDS I Italy:Bologna DNA hrMCA, SEQ - -
+/+ 31i c.2647-12A>G - Substitution Splice site p.(Gly883Leufs*195) - - - COL5A1_00152 AN_002509 Classical EDS Ritelli et al., 2013, Italy:Brescia DNA PCR, SEQ This is a sporadic case (de novo mutation verified). The splice site variant is predicted, in silico, to result in activation of a cryptic site 11 bases upstream with the retention of the last 11 bases of intron 31 and a frameshift as a consequence. This prediction has not been tested in vitro. Italian
+/+ 32 c.2657delG - Deletion Frameshift p.(Gly886Aspfs*188) - - - COL5A1_00066 P-24 Classical EDS Viglio et al., 2008 DNA, RNA RT-PCR, SEQ - -
+/+ 32i c.2700+1G>T - Substitution Splice site - - - - COL5A1_00020 EDS19 Classical EDS Malfait et al., 2005, Belgium:Ghent DNA, RNA DHPLC, PCR, RT-PCR, SEQ, CSGE, SSCP The authors report activation of a cryptic splice donor site 193 bases downstream of the wild type donor, with a PTC 29 codons upstream of new donor. -
+/+ 32i c.2701-25T>G - Substitution Splice site - - - - COL5A1_00047 MK EDS II Burrows et al., 1998 DNA, RNA PCR, RT-PCR, SEQ, Cloning The variant results in the skipping of exon 33. British
+/+ 32i c.2701-25T>G - Substitution Splice site - - - - COL5A1_00047 CH EDS II Burrows et al., 1998 DNA, RNA PCR, RT-PCR, SEQ, Cloning The variant results in the skipping of exon 33. British
?/- 33 c.2724G>A dbSNP Substitution Silent p.(=) - - - COL5A1_00078 - - dbSNP Unknown Unknown - -
+/+ 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
+/+ 34 c.2765G>A - Substitution Missense p.(Gly922Asp) - - - COL5A1_00165 Classical EDS Karaa and Stoler, 2013 DNA SEQ - -
+/+ 34 c.2770dup - Duplication Frameshift p.(Arg924Profs*16) - - - COL5A1_00124 AN_001919 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA PCR, SEQ - -
+/+ 35i c.2844+1G>A - Substitution Splice site - - - - COL5A1_00009 P11 Classical EDS Mitchell et al., 2009 DNA, RNA PCR, RT-PCR, SEQ, HA - -
+/+ 35i c.2845-2A>C - Substitution Splice site - - - - COL5A1_00010 P12 Classical EDS Mitchell et al., 2009 DNA, RNA PCR, RT-PCR, SEQ, HA - -
?/- 36 c.2852A>G dbSNP Substitution Missense p.(Asn951Ser) - - - COL5A1_00079 - - dbSNP Unknown Unknown The dbSNP entry is rather muddled for this variant. -
+/+ 36 c.2891dup - Duplication Frameshift p.(Gly967Trpfs*47) - - - COL5A1_00154 AN_002511 Classical EDS Ritelli et al., 2013, Italy:Brescia DNA PCR, SEQ This is a sporadic case (de novo mutation verified). Italian
-/- 36 c.2892C>T - Substitution Silent p.(=) - - - COL5A1_00056 - - Grond-Ginsbach et al., 1999 DNA, RNA PCR, RT-PCR, SSCP This variant was described as being at position 3018 with respect to the reference sequence with accession number D90279. -
+/+ 36i c.2899-1G>A - Substitution Splice site p.(Gly967Alafs*107) - - - COL5A1_00125 AN_001920 Classical EDS Symoens et al., 2012, Belgium:Ghent DNA, RNA RT-PCR, SEQ mRNA analysis shows a frameshift resulting in a premature stop codon. -
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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