Full data view for gene COL17A1

Information The variants shown are described using the NM_000494.3 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.186C>T r.(?) p.(Ser62=) Unknown - likely benign g.105837196G>A g.104077438G>A COL17A1(NM_000494.4):c.186C>T (p.S62=) - COL17A1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.202del r.(202del) p.(Thr68Leufs*106) Unknown - pathogenic g.105837181del g.104077423del 202delA - COL17A1_000036 - - - - Germline yes - - 0 - DNA SEQ-NG-I BLOOD - epidermolysis bullosa - - - M yes Iran - 03y 0 - - 1 Amir Hossein Saeidian
-?/. - c.382T>A r.(?) p.(Ser128Thr) Unknown - likely benign g.105833001A>T g.104073243A>T COL17A1(NM_000494.4):c.382T>A (p.S128T) - COL17A1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.566G>C r.(?) p.(Gly189Ala) Unknown - benign g.105830225C>G g.104070467C>G COL17A1(NM_000494.4):c.566G>C (p.G189A) - COL17A1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.629C>T r.(?) p.(Thr210Met) Unknown - benign g.105824333G>A g.104064575G>A COL17A1(NM_000494.4):c.629C>T (p.T210M) - COL17A1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.772G>A r.(?) p.(Gly258Arg) Unknown - VUS g.105823571C>T g.104063813C>T COL17A1(NM_000494.4):c.772G>A (p.G258R) - COL17A1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1062C>T r.(?) p.(Ala354=) Unknown - benign g.105819956G>A g.104060198G>A COL17A1(NM_000494.4):c.1062C>T (p.A354=) - COL17A1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1138G>A r.(?) p.(Ala380Thr) Unknown - likely benign g.105819880C>T g.104060122C>T COL17A1(NM_000494.4):c.1138G>A (p.A380T) - COL17A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1138G>A r.(?) p.(Ala380Thr) Unknown - likely benign g.105819880C>T g.104060122C>T COL17A1(NM_000494.4):c.1138G>A (p.A380T) - COL17A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1179del r.(?) p.(Ala394LeufsTer9) Unknown - pathogenic g.105819440del g.104059682del COL17A1(NM_000494.4):c.1179delA (p.A394Lfs*9) - COL17A1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1179del r.(?) p.(Ala394LeufsTer9) Unknown - pathogenic g.105819440del g.104059682del COL17A1(NM_000494.4):c.1179delA (p.A394Lfs*9) - COL17A1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1271T>A r.(?) p.(Ile424Asn) Unknown - likely benign g.105816927A>T g.104057169A>T COL17A1(NM_000494.4):c.1271T>A (p.I424N) - COL17A1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1282G>A r.(?) p.(Gly428Ser) Unknown - benign g.105816916C>T g.104057158C>T COL17A1(NM_000494.4):c.1282G>A (p.G428S) - COL17A1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1306G>A r.(?) p.(Gly436Arg) Unknown - likely benign g.105816892C>T g.104057134C>T COL17A1(NM_000494.4):c.1306G>A (p.G436R) - COL17A1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1336G>A r.(?) p.(Gly446Ser) Unknown - benign g.105816862C>T g.104057104C>T COL17A1(NM_000494.4):c.1336G>A (p.G446S) - COL17A1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1465+2T>C r.spl? p.? Unknown - pathogenic g.105816731A>G g.104056973A>G COL17A1(NM_000494.4):c.1465+2T>C - COL17A1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1589C>T r.(?) p.(Ala530Val) Unknown - likely benign g.105815638G>A g.104055880G>A COL17A1(NM_000494.4):c.1589C>T (p.A530V) - COL17A1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1590G>A r.(?) p.(Ala530=) Unknown - likely benign g.105815637C>T g.104055879C>T COL17A1(NM_000494.4):c.1590G>A (p.A530=) - COL17A1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1601del r.(?) p.(Asp534AlafsTer19) Unknown - pathogenic g.105815626del g.104055868del COL17A1(NM_000494.4):c.1601delA (p.D534Afs*19) - COL17A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1618C>A r.(?) p.(Leu540Met) Unknown - likely benign g.105815609G>T g.104055851G>T COL17A1(NM_000494.4):c.1618C>A (p.L540M) - COL17A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1618C>A r.(?) p.(Leu540Met) Unknown - likely benign g.105815609G>T g.104055851G>T COL17A1(NM_000494.4):c.1618C>A (p.L540M) - COL17A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1644C>T r.(?) p.(Leu548=) Unknown - likely benign g.105815583G>A g.104055825G>A COL17A1(NM_000494.4):c.1644C>T (p.L548=) - COL17A1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1654G>T r.(?) p.(Val552Leu) Unknown - likely benign g.105815573C>A g.104055815C>A COL17A1(NM_000494.4):c.1654G>T (p.V552L) - COL17A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1761T>C r.(?) p.(Pro587=) Unknown - likely benign g.105813860A>G g.104054102A>G COL17A1(NM_000494.4):c.1761T>C (p.P587=) - COL17A1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2092+17C>G r.(=) p.(=) Unknown - likely benign g.105810589G>C g.104050831G>C COL17A1(NM_000494.4):c.2092+17C>G - COL17A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2107A>G r.(?) p.(Met703Val) Unknown - benign g.105810400T>C g.104050642T>C COL17A1(NM_000494.4):c.2107A>G (p.M703V) - COL17A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2361G>C r.(?) p.(Gln787His) Unknown - likely benign g.105806506C>G g.104046748C>G COL17A1(NM_000494.4):c.2361G>C (p.Q787H) - COL17A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ - c.2363dup r.(?) p.(Leu789Thrfs*13) Unknown - likely pathogenic g.105805551dup - 2363dupG - COL17A1_000055 - - - - Unknown - - - 0 - DNA SEQ-NG - - epidermolysis bullosa, junctional, non-Herlitz type 111 - - F - China - - - - - 1 Sha Hong
-/. - c.2398+19G>A r.(=) p.(=) Unknown - benign g.105805497C>T g.104045739C>T COL17A1(NM_000494.4):c.2398+19G>A - COL17A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2407G>T r.(?) p.(Gly803*) Unknown ACMG likely pathogenic g.105803610C>A g.104043852C>A - - COL17A1_000052 ACMG: PVS1,PM2; no second variant detected - - rs752317971 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
+/. - c.2434+1G>A r.spl? p.? Unknown - pathogenic g.105803582C>T g.104043824C>T COL17A1(NM_000494.4):c.2434+1G>A - COL17A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2595C>T r.(?) p.(Arg865=) Unknown - benign g.105801253G>A g.104041495G>A COL17A1(NM_000494.4):c.2595C>T (p.R865=) - COL17A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2716G>A r.(?) p.(Gly906Ser) Unknown - likely pathogenic g.105800154C>T g.104040396C>T COL17A1(NM_000494.4):c.2716G>A (p.G906S) - COL17A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2716G>A r.(?) p.(Gly906Ser) Unknown - VUS g.105800154C>T g.104040396C>T COL17A1(NM_000494.4):c.2716G>A (p.G906S) - COL17A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2755G>A r.(?) p.(Asp919Asn) Unknown - VUS g.105800115C>T g.104040357C>T COL17A1(NM_000494.4):c.2755G>A (p.D919N) - COL17A1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2755G>A r.(?) p.(Asp919Asn) Parent #1 - VUS g.105800115C>T g.104040357C>T - - COL17A1_000042 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117564807 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+/. - c.2861del r.(?) p.(Gly954AlafsTer112) Unknown - pathogenic g.105799239del g.104039481del COL17A1(NM_000494.4):c.2861delG (p.G954Afs*112) - COL17A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2883C>A r.(?) p.(Pro961=) Unknown - benign g.105799216G>T g.104039458G>T COL17A1(NM_000494.4):c.2883C>A (p.P961=) - COL17A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2904A>G r.(?) p.(Pro968=) Unknown - benign g.105798872T>C g.104039114T>C COL17A1(NM_000494.4):c.2904A>G (p.P968=) - COL17A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2971G>A r.(?) p.(Val991Met) Unknown - VUS g.105798263C>T g.104038505C>T - - COL17A1_000001 - - - - Germline - - - - - DNA SEQ-NG, SEQ, arraySNP, PCR - - BMD/DMD, HD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.3000_3008del r.(?) p.(Pro1003_Gly1005del) Unknown - likely pathogenic g.105798240_105798248del g.104038482_104038490del COL17A1(NM_000494.4):c.3000_3008delCCCTGGGCC (p.P1003_G1005del) - COL17A1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3190G>A r.(?) p.(Val1064Ile) Unknown - likely benign g.105797412C>T g.104037654C>T COL17A1(NM_000494.3):c.3190G>A (p.(Val1064Ile)) - COL17A1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3205C>T r.(?) p.(Arg1069Trp) Unknown - VUS g.105797397G>A g.104037639G>A COL17A1(NM_000494.4):c.3205C>T (p.R1069W) - COL17A1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3208+16C>T r.(=) p.(=) Unknown - benign g.105797378G>A g.104037620G>A COL17A1(NM_000494.4):c.3208+16C>T - COL17A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3261T>C r.(?) p.(Ile1087=) Unknown - benign g.105796819A>G g.104037061A>G COL17A1(NM_000494.4):c.3261T>C (p.I1087=) - COL17A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3278-9C>G r.(=) p.(=) Unknown - benign g.105796399G>C g.104036641G>C COL17A1(NM_000494.4):c.3278-9C>G - COL17A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.3301C>T r.(?) p.(Arg1101Cys) Unknown - likely pathogenic g.105796367G>A - - - COL17A1_000054 - - - - Unknown - - - - - DNA SEQ-NG - - epidermolysis bullosa, junctional, non-Herlitz type 111 - - F - China - - - - - 1 Sha Hong
-/. - c.3600C>T r.(?) p.(Asp1200=) Unknown - benign g.105795040G>A g.104035282G>A COL17A1(NM_000494.4):c.3600C>T (p.D1200=) - COL17A1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3633A>G r.(?) p.(Ser1211=) Unknown - likely benign g.105794512T>C g.104034754T>C COL17A1(NM_000494.4):c.3633A>G (p.S1211=) - COL17A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3686C>T r.(?) p.(Pro1229Leu) Unknown - VUS g.105794459G>A g.104034701G>A COL17A1(NM_000494.4):c.3686C>T (p.P1229L) - COL17A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3730G>A r.(?) p.(Asp1244Asn) Unknown - VUS g.105794415C>T g.104034657C>T COL17A1(NM_000494.4):c.3730G>A (p.D1244N) - COL17A1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3766+14C>A r.(=) p.(=) Unknown - likely benign g.105794365G>T g.104034607G>T COL17A1(NM_000494.4):c.3766+14C>A - COL17A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4096G>A r.(?) p.(Asp1366Asn) Unknown - likely benign g.105793763C>T g.104034005C>T COL17A1(NM_000494.4):c.4096G>A (p.D1366N) - COL17A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4296T>C r.(?) p.(Thr1432=) Unknown - likely benign g.105792725A>G - COL17A1(NM_000494.4):c.4296T>C (p.T1432=) - COL17A1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4302A>G r.(?) p.(Gly1434=) Unknown - likely benign g.105792719T>C g.104032961T>C COL17A1(NM_000494.4):c.4302A>G (p.G1434=) - COL17A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4304C>T r.(?) p.(Ala1435Val) Unknown - likely benign g.105792717G>A g.104032959G>A COL17A1(NM_000494.3):c.4304C>T (p.(Ala1435Val)), COL17A1(NM_000494.4):c.4304C>T (p.A1435V) - COL17A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4304C>T r.(?) p.(Ala1435Val) Unknown - likely benign g.105792717G>A g.104032959G>A COL17A1(NM_000494.3):c.4304C>T (p.(Ala1435Val)), COL17A1(NM_000494.4):c.4304C>T (p.A1435V) - COL17A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4460G>A r.(?) p.(Arg1487Gln) Unknown - VUS g.105792027C>T g.104032269C>T COL17A1(NM_000494.4):c.4460G>A (p.R1487Q) - COL17A1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query