LOVD - Variant listings for COL3A1

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+/+ 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.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.202_207del - Deletion In-frame deletion p.Asp68_Asp69del - - - - COL3A1_00340 AN_002958 Vascular EDS Frank et al., 2015, France:PARIS DNA SEQ - -
+/+ 03 c.318_325del - Deletion Frameshift p.(Pro107Argfs*13) - - - - COL3A1_00648 AN_005688 Vascular EDS 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 - -
+/+ 07 c.530G>A - Substitution Missense p.Gly177Asp Gly10Asp - - - COL3A1_00588 AN_004703 Vascular EDS Frank et al., 2015, France:PARIS DNA SEQ - -
-/- 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.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 - -
+/+ 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 - -
+/+ 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 - -
+/+ 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 - -
+/+ 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.555del - Deletion Frameshift p.(Gly186Valfs*36) - - - - COL3A1_00649 AN_005689 Vascular EDS Netherlands:Amsterdam DNA CNGP - -
+/+ 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.556G>A - Substitution Missense p.Gly186Ser Gly19Ser - - - COL3A1_00330 AN_002945 Vascular EDS Frank et al., 2015, France:PARIS DNA SEQ - -
+/+ 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.575G>A - Substitution Missense p.Gly192Asp Gly25Asp - - - COL3A1_00279 Patient 3 Vascular EDS Ferré et al., 2012, France:PARIS DNA PCR, SEQ This patient was subsequently described by Frank et al., 2015. -
+/+ 07 c.575G>A - Substitution Missense p.Gly192Asp Gly25Asp - - - COL3A1_00279 Patient 4 Vascular EDS Ferré et al., 2012 , France:PARIS DNA PCR, SEQ - -
+/+ 07 c.575G>A - Substitution Missense p.Gly192Asp Gly25Asp - - - COL3A1_00279 AN_004704 Vascular EDS Frank et al., 2015, France:PARIS DNA SEQ - -
+/+ 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 - -
+/+ 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>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.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>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 - -
+/+ 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 - -
+/+ 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 - -
+/+ 09 c.647G>A - Substitution Missense p.Gly216Glu Gly49Glu - - - COL3A1_00388 AN_003155 EDS IV Pepin et al., 2014, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - -
+/+ 09 c.647G>C - Substitution Missense p.Gly216Ala Gly49Ala - - - COL3A1_00281 AN_002921 Vascular EDS Ferré et al., 2012, France:PARIS DNA PCR, SEQ This individual is identified as Patient 6 by Ferré et al., 2012 and was subsequently described by Frank et al., 2015. -
+/+ 09 c.649_1663-86del - Deletion In-frame deletion p.Gly212_Pro554del - - - - COL3A1_00128 EDS IV Lee et al., 1991 DNA, RNA PCR, RT-PCR, SEQ This patient was previously described by Superti-Furga et al., 1988. -
+/+ 09 c.655G>T - Substitution Missense p.Gly219Cys Gly52Cys - - - COL3A1_00012 AN_003156 EDS IV Rossi et al., 1998 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. -
+/+ 09 c.656G>A - Substitution Missense p.Gly219Asp Gly52Asp - - - COL3A1_00390 AN_003158 EDS IV Pepin et al., 2014, United States:Seattle DNA SEQ de novo -
+/+ 09 c.656G>A - Substitution Missense p.Gly219Asp Gly52Asp - - - COL3A1_00390 AN_003159 EDS IV Pepin et al., 2014, United States:Seattle DNA SEQ - -
+/+ 09 c.656G>C - Substitution Missense p.Gly219Ala Gly52Ala - - - COL3A1_00389 AN_003157 EDS IV Pepin et al., 2014, United States:Seattle DNA SEQ - -
+?/+ 09 c.665G>A - Substitution Missense p.Gly222Asp Gly55Asp - - - COL3A1_00211 P004 EDS IV Spain:Valencia DNA SEQ - Caucasian
+/+ 09 c.665G>A - Substitution Missense p.Gly222Asp Gly55Asp - - - COL3A1_00211 AN_002902 Vascular EDS Ferré et al., 2012, France:PARIS DNA PCR, SEQ This individual is identified as Patient 1 by Ferré et al., 2012 and was subsequently described by Frank et al., 2015. -
+/+ 09 c.665G>A - Substitution Missense p.Gly222Asp Gly55Asp - - - COL3A1_00211 AN_003160 EDS IV Pepin et al., 2014, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ - -
+/+ 09 c.665G>A - Substitution Missense p.Gly222Asp Gly55Asp - - - COL3A1_00211 AN_003161 EDS IV Pepin et al., 2014, United States:Seattle DNA, RNA PCR, RT-PCR, SEQ de novo -
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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.
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