Unique variants in the KRT6A gene

Information The variants shown are described using the NM_005554.3 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.262G>A r.(?) p.(Gly88Arg) - VUS g.52886711C>T - KRT6A(NM_005554.4):c.262G>A (p.G88R) - KRT6A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.332G>A r.(?) p.(Gly111Asp) - benign g.52886641C>T g.52492857C>T KRT6A(NM_005554.4):c.332G>A (p.G111D) - KRT6A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.460C>G r.(?) p.(Pro154Ala) - benign g.52886513G>C g.52492729G>C KRT6A(NM_005554.4):c.460C>G (p.P154A) - KRT6A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.483T>C r.(?) p.(Ala161=) - benign g.52886490A>G g.52492706A>G KRT6A(NM_005554.4):c.483T>C (p.A161=) - KRT6A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 - c.487G>A r.(?) p.(Glu163Lys) - pathogenic g.52886486C>T g.52492702C>T - - chr12_007266 - PubMed: Wilson 2011, PubMed: Wilson 2014 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.491G>C r.(?) p.(Arg164Pro) - pathogenic g.52886482C>G g.52492698C>G - - chr12_007292 - PubMed: Liao 2007 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.495A>G r.(?) p.(Glu165=) - benign g.52886478T>C g.52492694T>C KRT6A(NM_005554.4):c.495A>G (p.E165=) - KRT6A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.497A>C r.(?) p.(Gln166Pro) - pathogenic g.52886476T>G g.52492692T>G Gln166Pro - chr12_007295 - PubMed: Lv 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.500T>A r.(?) p.(Ile167Asn) - pathogenic g.52886473A>T g.52492689A>T - - chr12_007257 - PubMed: Smith 2005 - - Germline - - Sau3A- - - Johan den Dunnen
+/. 1 - c.500T>G r.(?) p.(Ile167Ser) - pathogenic g.52886473A>C g.52492689A>C - - chr12_007281 - PubMed: Wilson 2011 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.508C>T r.(?) p.(Leu170Phe) - pathogenic g.52886465G>A g.52492681G>A - - chr12_007258 - PubMed: Smith 2005, PubMed: Wilson 2014 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 - c.511A>G r.(?) p.(Asn171Asp) - pathogenic, pathogenic (dominant) g.52886462T>C g.52492678T>C - - KRT6A_000018 - PubMed: Bai 2008, PubMed: Liao 2007 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 - c.511A>T r.(?) p.(Asn171Tyr) - pathogenic g.52886462T>A g.52492678T>A - - chr12_007293 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.512A>C r.(?) p.(Asn171Thr) - pathogenic g.52886461T>G g.52492677T>G - - chr12_007282 - PubMed: Wilson 2011 - - Germline - - - - - Johan den Dunnen
+/. 7 - c.512A>G r.(?) p.(Asn171Ser) - pathogenic g.52886461T>C g.52492677T>C - - chr12_007259 - PubMed: Liao 2007, PubMed: Smith 2005, PubMed: Wilson 2011 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 4 - c.513C>A r.(?), r.513c>a p.(Asn171Lys), p.Asn171Lys - pathogenic, pathogenic (dominant) g.52886460G>T g.52492676G>T 513C>A, Asn171Lys - chr12_007265, KRT6A_000012 - PubMed: Lv 2009, PubMed: Smith 1999, PubMed: Smith 2005, PubMed: Wilson 2011 - - Germline, Germline/De novo (untested) yes - - - - Johan den Dunnen
+/. 3 - c.514_516del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del c.514_516delAAC - KRT6A_000010 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 37 - c.516_518del r.(?) p.(Asn172del) - pathogenic, pathogenic (dominant) g.52886461_52886463del g.52492677_52492679del 511-513del (N171del), 514_516delAAC, Asn172del, c.516_518delCAA, N171del - KRT6A_000010 - PubMed: Bowden 1995, PubMed: Lv 2009, PubMed: Smith 2005, PubMed: Terrinoni 2001, PubMed: Wilson 2011, 1 more item - - Germline, Germline/De novo (untested) yes - - - - Johan den Dunnen
+/. 1 - c.520T>A r.(?) p.(Phe174Ile) - pathogenic g.52886453A>T g.52492669A>T - - chr12_007267 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.520T>G r.(?) p.(Phe174Val) - pathogenic g.52886453A>C g.52492669A>C - - chr12_007253 - PubMed: Terrinoni 2001 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 11 - c.521T>C r.(?) p.(Phe174Ser) - pathogenic, pathogenic (dominant) g.52886452A>G g.52492668A>G Phe174Ser - chr12_007256, KRT6A_000013 - PubMed: Lv 2009, PubMed: Smith 1999, PubMed: Smith 2005, PubMed: Terrinoni 2001, PubMed: Wilson 2011, 1 more item - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.521T>G r.(?) p.(Phe174Cys) - pathogenic g.52886452A>C g.52492668A>C - - chr12_007294 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.526T>C r.(?) p.(Ser176Pro) - pathogenic g.52886447A>G g.52492663A>G - - chr12_007260 - PubMed: Smith 2005 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.533T>A r.(?) p.(Ile178Asn) - pathogenic g.52886440A>T g.52492656A>T Ile178Asn - chr12_007268 - PubMed: Lv 2009, PubMed: Wilson 2014 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 - c.541-2A>C r.spl p.? - pathogenic g.52885522T>G g.52491738T>G - - chr12_007271 - PubMed: Wilson 2011, PubMed: Wilson 2014 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 4 - c.541-2A>G r.spl p.(Val181_Gln186del), p.? - pathogenic g.52885522T>C g.52491738T>C - - chr12_007270 - PubMed: Wilson 2011, PubMed: Wilson 2014 - - Germline - - - - - Johan den Dunnen
+/. 3 - c.541-1G>C r.spl p.? - pathogenic g.52885521C>G g.52491737C>G - - chr12_007269 - PubMed: Wilson 2011, PubMed: Wilson 2014 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.541-1G>T r.spl p.? - pathogenic g.52885521C>A g.52491737C>A - - chr12_007283 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 1 - c.687C>T r.(?) p.(Val229=) - likely benign g.52885374G>A g.52491590G>A KRT6A(NM_005554.4):c.687C>T (p.V229=) - KRT6A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1244G>A r.(?) p.(Arg415His) - VUS g.52882292C>T - KRT6A(NM_005554.4):c.1244G>A (p.R415H) - KRT6A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1303C>T r.(?) p.(Gln435Ter) - pathogenic g.52882233G>A g.52488449G>A - - chr12_007284 - PubMed: Wilson 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1381G>A r.(?) p.(Glu461Lys) - pathogenic g.52882155C>T g.52488371C>T - - chr12_007285 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.1381G>C r.(?) p.(Glu461Gln) - pathogenic g.52882155C>G g.52488371C>G - - chr12_007286 - PubMed: Wilson 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1381G>T r.(?) p.(Glu461Ter) - pathogenic g.52882155C>A g.52488371C>A - - chr12_007272 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 - c.1385T>A r.(?) p.(Ile462Asn) - pathogenic g.52882151A>T g.52488367A>T - - chr12_007261 - PubMed: Smith 2005, PubMed: Wilson 2014 - - Germline, Germline/De novo (untested) - - Sau3A- - - Johan den Dunnen
+/. 1 - c.1385T>G r.(?) p.(Ile462Ser) - pathogenic (dominant) g.52882151A>C - - - KRT6A_000014 - PubMed: Kang 2004 - - De novo - - - - - Johan den Dunnen
+/. 2 - c.1387G>C r.(?) p.(Ala463Pro) - pathogenic g.52882149C>G g.52488365C>G Ala463Pro - chr12_007273 - PubMed: Lv 2009, PubMed: Wilson 2014 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 - c.1390A>C r.(?) p.(Thr464Pro) - pathogenic, pathogenic (dominant) g.52882146T>G g.52488362T>G - - chr12_007274, KRT6A_000015 - PubMed: Garcia-Rio 2005, PubMed: Wilson 2014 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 3 - c.1393T>C r.(?) p.(Tyr465His) - pathogenic, pathogenic (dominant) g.52882143A>G g.52488359A>G Tyr465His - chr12_007289, KRT6A_000017 - PubMed: Bai 2008, PubMed: Lv 2009, PubMed: Wilson 2011 - - Germline, Germline/De novo (untested) yes - - - - Johan den Dunnen
+/. 1 - c.1394A>G r.(?) p.(Tyr465Cys) - pathogenic g.52882142T>C g.52488358T>C - - chr12_007287 - PubMed: Wilson 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1394_1396dup r.(?) p.(Tyr465_Arg466insHis) - pathogenic g.52882140_52882142dup g.52488356_52488358dup 1394_1396dupACC - chr12_007288 - PubMed: Wilson 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1403T>A r.(?) p.(Leu468Gln) - pathogenic (dominant) g.52882133A>T - - - KRT6A_000016 - PubMed: Zhou 2007 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 5 - c.1403T>C r.(?) p.(Leu468Pro) - pathogenic g.52882133A>G g.52488349A>G - - chr12_007262 - PubMed: Smith 2005, PubMed: Wilson 2011, PubMed: Wilson 2014 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 5 - c.1406T>C r.(?) p.(Leu469Pro) - pathogenic g.52882130A>G g.52488346A>G - - chr12_007263 - PubMed: Liao 2007, PubMed: Smith 2005, PubMed: Wilson 2011, PubMed: Wilson 2014 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 3 - c.1406T>G r.(?) p.(Leu469Arg) - pathogenic g.52882130A>C g.52488346A>C - - chr12_007255 - PubMed: Liao 2007, PubMed: Terrinoni 2001, PubMed: Wilson 2011 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.1411_1412ins(117) r.(?) p.(Glu470_Gly471ins39 - pathogenic g.52882124_52882125ins(117) g.52488340_52488341ins(117) 1410ins117 (E470ins39) - chr12_007264 - PubMed: Smith 2005 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 7 - c.1414G>A r.(?) p.(Glu472Lys) - pathogenic g.52882122C>T g.52488338C>T - - chr12_007254 - PubMed: Liao 2007, PubMed: Terrinoni 2001, PubMed: Wilson 2011, PubMed: Wilson 2014 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.1416G>C r.(?) p.(Glu472Asp) - pathogenic g.52882120C>G g.52488336C>G - - chr12_007290 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.1417dup r.(?) p.(Glu473GlyfsTer91) - pathogenic g.52882120dup g.52488336dup c.1417dupG - chr12_007275 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 8i c.1460-2A>C r.1460_1470del p.Ser487Phefs*73 - pathogenic (dominant) g.52881741T>G - IVS8-2A>C - KRT6A_000011 - PubMed: Du 2012 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.1460-1G>C r.spl p.? - pathogenic g.52881740C>G g.52487956C>G - - chr12_007276 - PubMed: Wilson 2014 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1477G>A r.(?) p.(Val493Ile) - likely benign g.52881722C>T g.52487938C>T KRT6A(NM_005554.4):c.1477G>A (p.V493I) - KRT6A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1511dup r.(?) p.(Ser505GlnfsTer59) - pathogenic g.52881689dup g.52487905dup 1511_1512insG - chr12_007291 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 1 - c.1567G>A r.(?) p.(Val523Ile) - likely benign g.52881632C>T g.52487848C>T KRT6A(NM_005554.4):c.1567G>A (p.V523I) - KRT6A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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