All variants in the KCNA1 gene

Information The variants shown are described using the NM_000217.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

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     
?/. - c.136C>A r.(?) p.(Leu46Met) - VUS g.5020680C>A g.4911514C>A KCNA1(NM_000217.3):c.136C>A (p.L46M) - KCNA1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.237G>A r.(?) p.(Glu79=) - likely benign g.5020781G>A g.4911615G>A KCNA1(NM_000217.3):c.237G>A (p.E79=) - KCNA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.303C>T r.(?) p.(Arg101=) - likely benign g.5020847C>T g.4911681C>T KCNA1(NM_000217.3):c.303C>T (p.R101=) - KCNA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.393G>A r.(?) p.(Arg131=) - likely benign g.5020937G>A g.4911771G>A KCNA1(NM_000217.3):c.393G>A (p.R131=) - KCNA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.497C>T r.(?) p.(Ala166Val) - VUS g.5021041C>T g.4911875C>T - - KCNA1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.500G>T r.(?) p.(Arg167Met) - likely pathogenic g.5021044G>T - KCNA1(NM_000217.3):c.500G>T (p.R167M) - KCNA1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.520G>T r.(?) p.(Val174Phe) - pathogenic g.5021064G>T g.4911898G>T - - KCNA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.550T>G r.(?) p.(Phe184Val) - likely pathogenic g.5021094T>G g.4911928T>G - - KCNA1_000003 - - - - Unknown - - - 0 - IMGAG
?/. - c.669C>G r.(?) p.(Ile223Met) - VUS g.5021213C>G - KCNA1(NM_000217.3):c.669C>G (p.I223M) - KCNA1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.684T>C r.(?) p.(Cys228=) - benign g.5021228T>C g.4912062T>C KCNA1(NM_000217.3):c.684T>C (p.C228=) - KCNA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.684T>C r.(?) p.(Cys228=) - benign g.5021228T>C g.4912062T>C KCNA1(NM_000217.3):c.684T>C (p.C228=) - KCNA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.684T>C r.(?) p.(Cys228=) - benign g.5021228T>C g.4912062T>C KCNA1(NM_000217.3):c.684T>C (p.C228=) - KCNA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.803_804delinsAC r.(?) p.(Thr268Asn) - VUS g.5021347_5021348delinsAC g.4912181_4912182delinsAC KCNA1(NM_000217.3):c.803_804delCGinsAC (p.T268N) - KCNA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.804G>C r.(?) p.(Thr268=) - benign g.5021348G>C g.4912182G>C KCNA1(NM_000217.3):c.804G>C (p.T268=) - KCNA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.804G>C r.(?) p.(Thr268=) - benign g.5021348G>C g.4912182G>C KCNA1(NM_000217.3):c.804G>C (p.T268=) - KCNA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.804G>C r.(?) p.(Thr268=) - benign g.5021348G>C g.4912182G>C KCNA1(NM_000217.3):c.804G>C (p.T268=) - KCNA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.860C>T r.(?) p.(Ser287Phe) - pathogenic g.5021404C>T g.4912238C>T KCNA1(NM_000217.3):c.860C>T (p.S287F) - KCNA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.913C>G r.(?) p.(Leu305Val) - pathogenic g.5021457C>G - - - KCNA1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.920G>A r.(?) p.(Arg307His) - VUS g.5021464G>A - KCNA1(NM_000217.3):c.920G>A (p.R307H) - KCNA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.931G>A r.(?) p.(Gly311Ser) - likely pathogenic g.5021475G>A - - - KCNA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1007G>A r.(?) p.(Gly336Glu) ACMG likely pathogenic g.5021551G>A g.4912385G>A - - KCNA1_000002 - PubMed: Trujillano 2017 - - De novo - - - 0 - Daniel Trujillano
?/. - c.1085C>A r.(?) p.(Ala362Asp) - VUS g.5021629C>A g.4912463C>A - - KCNA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1112C>T r.(?) p.(Thr371Ile) - pathogenic g.5021656C>T g.4912490C>T - - KCNA1_000001 - PubMed: Gilissen 2014 - - De novo - - - 0 - Marianne Vos (LOVD-team)
-?/. - c.1125C>T r.(?) p.(Tyr375=) - likely benign g.5021669C>T g.4912503C>T KCNA1(NM_000217.3):c.1125C>T (p.Y375=) - KCNA1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1129G>C r.(?) p.(Asp377His) - pathogenic g.5021673G>C g.4912507G>C - - KCNA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1297C>T r.(?) p.(Pro433Ser) - VUS g.5021841C>T g.4912675C>T KCNA1(NM_000217.3):c.1297C>T (p.P433S) - KCNA1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1440T>A r.(?) p.(Thr480=) - benign g.5021984T>A g.4912818T>A KCNA1(NM_000217.3):c.1440T>A (p.T480=) - KCNA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1440T>A r.(?) p.(Thr480=) - benign g.5021984T>A g.4912818T>A KCNA1(NM_000217.3):c.1440T>A (p.T480=) - KCNA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1440T>A r.(?) p.(Thr480=) - benign g.5021984T>A g.4912818T>A KCNA1(NM_000217.3):c.1440T>A (p.T480=) - KCNA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1458T>C r.(?) p.(Val486=) - likely benign g.5022002T>C g.4912836T>C KCNA1(NM_000217.3):c.1458T>C (p.V486=) - KCNA1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*9G>A r.(=) p.(=) - benign g.5022041G>A g.4912875G>A KCNA1(NM_000217.3):c.*9G>A - KCNA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.*9G>A r.(=) p.(=) - benign g.5022041G>A g.4912875G>A KCNA1(NM_000217.3):c.*9G>A - KCNA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.*9G>A r.(=) p.(=) - benign g.5022041G>A g.4912875G>A KCNA1(NM_000217.3):c.*9G>A - KCNA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*228A>C r.(=) p.(=) - benign g.5022260A>C g.4913094A>C - - KCNA1_000022 11 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142908193 Germline - 11/2786 individuals - 0 - Mohammed Faruq
-/. - c.*228A>C r.(=) p.(=) - benign g.5022260A>C g.4913094A>C - - KCNA1_000022 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142908193 Germline - 1/2786 individuals - 0 - Mohammed Faruq
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