Full data view for gene KCNA5

Information The variants shown are described using the NM_002234.3 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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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.28A>G r.(?) p.(Asn10Asp) Unknown - likely benign g.5153341A>G g.5044175A>G - - KCNA5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.78C>T r.(?) p.(Cys26=) Unknown - benign g.5153391C>T - KCNA5(NM_002234.4):c.78C>T (p.C26=) - KCNA5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.92G>T r.(?) p.(Gly31Val) Unknown - benign g.5153405G>T g.5044239G>T KCNA5(NM_002234.4):c.92G>T (p.G31V) - KCNA5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.98A>T r.(?) p.(Glu33Val) Unknown ACMG VUS g.5153411A>T - - - KCNA5_000031 ACMG: PM2, PP3: class 3 - - - Germline ? - - - - DNA SEQ-NG-I - - SIDS 155454 - submission for publication Schoen et al.; 2021: sudden unexplained death ? ? Germany - - - - - 1 Andreas Laner
?/. - c.98A>T r.(?) p.(Glu33Val) Unknown - VUS g.5153411A>T - KCNA5(NM_002234.4):c.98A>T (p.E33V) - KCNA5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.180G>A r.(?) p.(Ala60=) Unknown - benign g.5153493G>A g.5044327G>A KCNA5(NM_002234.4):c.180G>A (p.A60=) - KCNA5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194G>C r.(?) p.(Arg65Pro) Unknown - VUS g.5153507G>C - KCNA5(NM_002234.4):c.194G>C (p.R65P) - KCNA5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.196C>T r.(?) p.(Pro66Ser) Unknown - likely benign g.5153509C>T - KCNA5(NM_002234.3):c.196C>T (p.(Pro66Ser)) - KCNA5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.213_245del r.(?) p.(Asp72_Pro82del) Unknown - VUS g.5153526_5153558del g.5044360_5044392del KCNA5(NM_002234.4):c.213_245del (p.D72_P82del) - KCNA5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213_245del r.(?) p.(Asp72_Pro82del) Unknown - likely benign g.5153526_5153558del g.5044360_5044392del KCNA5(NM_002234.4):c.213_245del (p.D72_P82del) - KCNA5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.251A>C r.(?) p.(Glu84Ala) Unknown - likely benign g.5153564A>C g.5044398A>C - - KCNA5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.260G>A r.(?) p.(Arg87Gln) Unknown - VUS g.5153573G>A g.5044407G>A KCNA5(NM_002234.4):c.260G>A (p.R87Q) - KCNA5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.341C>A r.(?) p.(Thr114Lys) Unknown - VUS g.5153654C>A g.5044488C>A KCNA5(NM_002234.4):c.341C>A (p.T114K) - KCNA5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.381C>T r.(?) p.(Ser127=) Unknown - benign g.5153694C>T g.5044528C>T KCNA5(NM_002234.4):c.381C>T (p.S127=, p.(Ser127=)) - KCNA5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.381C>T r.(?) p.(Ser127=) Unknown - benign g.5153694C>T g.5044528C>T KCNA5(NM_002234.4):c.381C>T (p.S127=, p.(Ser127=)) - KCNA5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381C>T r.(?) p.(Ser127=) Unknown - likely benign g.5153694C>T - KCNA5(NM_002234.4):c.381C>T (p.S127=, p.(Ser127=)) - KCNA5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.507G>T r.(?) p.(Arg169=) Unknown - likely benign g.5153820G>T g.5044654G>T KCNA5(NM_002234.4):c.507G>T (p.R169=) - KCNA5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.544G>A r.(?) p.(Gly182Arg) Unknown - VUS g.5153857G>A g.5044691G>A KCNA5(NM_002234.3):c.544G>A (p.(Gly182Arg)) - KCNA5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.570C>T r.(?) p.(Asn190=) Unknown - benign g.5153883C>T g.5044717C>T KCNA5(NM_002234.4):c.570C>T (p.N190=) - KCNA5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.633G>C r.(?) p.(Glu211Asp) Unknown - likely benign g.5153946G>C g.5044780G>C KCNA5(NM_002234.4):c.633G>C (p.E211D) - KCNA5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.634C>T r.(?) p.(Arg212Cys) Unknown - likely benign g.5153947C>T g.5044781C>T KCNA5(NM_002234.4):c.634C>T (p.R212C) - KCNA5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.634C>T r.(?) p.(Arg212Cys) Unknown - likely benign g.5153947C>T - KCNA5(NM_002234.4):c.634C>T (p.R212C) - KCNA5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.751G>A r.(?) p.(Ala251Thr) Unknown - benign g.5154064G>A g.5044898G>A KCNA5(NM_002234.3):c.751G>A (p.(Ala251Thr)), KCNA5(NM_002234.4):c.751G>A (p.A251T) - KCNA5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.751G>A r.(?) p.(Ala251Thr) Unknown - likely benign g.5154064G>A g.5044898G>A KCNA5(NM_002234.3):c.751G>A (p.(Ala251Thr)), KCNA5(NM_002234.4):c.751G>A (p.A251T) - KCNA5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.751G>A r.(?) p.(Ala251Thr) Unknown - benign g.5154064G>A g.5044898G>A KCNA5(NM_002234.3):c.751G>A (p.(Ala251Thr)), KCNA5(NM_002234.4):c.751G>A (p.A251T) - KCNA5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.751G>A r.(?) p.(Ala251Thr) Parent #1 - likely benign g.5154064G>A g.5044898G>A - - KCNA5_000008 40 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12720442 Germline - 40/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 40 Mohammed Faruq
?/. - c.754A>C r.(?) p.(Ile252Leu) Unknown - VUS g.5154067A>C g.5044901A>C KCNA5(NM_002234.4):c.754A>C (p.I252L) - KCNA5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.797C>T r.(?) p.(Thr266Ile) Unknown - VUS g.5154110C>T - KCNA5(NM_002234.4):c.797C>T (p.T266I) - KCNA5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.859G>T r.(?) p.(Ala287Ser) Unknown - likely benign g.5154172G>T - KCNA5(NM_002234.4):c.859G>T (p.A287S) - KCNA5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.860C>T r.(?) p.(Ala287Val) Unknown - likely benign g.5154173C>T - KCNA5(NM_002234.4):c.860C>T (p.A287V) - KCNA5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.904G>T r.(?) p.(Gly302Trp) Unknown - likely benign g.5154217G>T g.5045051G>T - - KCNA5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.919C>T r.(?) p.(Pro307Ser) Unknown - benign g.5154232C>T g.5045066C>T KCNA5(NM_002234.4):c.919C>T (p.P307S) - KCNA5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.919C>T r.(?) p.(Pro307Ser) Unknown - likely benign g.5154232C>T g.5045066C>T KCNA5(NM_002234.4):c.919C>T (p.P307S) - KCNA5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.919C>T r.(?) p.(Pro307Ser) Unknown - benign g.5154232C>T - KCNA5(NM_002234.4):c.919C>T (p.P307S) - KCNA5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.928C>T r.(?) p.(Pro310Ser) Unknown - likely benign g.5154241C>T - KCNA5(NM_002234.4):c.928C>T (p.P310S) - KCNA5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.929C>T r.(?) p.(Pro310Leu) Unknown - benign g.5154242C>T g.5045076C>T KCNA5(NM_002234.4):c.929C>T (p.P310L) - KCNA5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.929C>T r.(?) p.(Pro310Leu) Parent #1 - benign g.5154242C>T g.5045076C>T - - KCNA5_000011 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17215402 Germline - 8/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-/. - c.929C>T r.(?) p.(Pro310Leu) Unknown - benign g.5154242C>T - KCNA5(NM_002234.4):c.929C>T (p.P310L) - KCNA5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1020C>T r.(?) p.(Leu340=) Unknown - benign g.5154333C>T - KCNA5(NM_002234.4):c.1020C>T (p.L340=) - KCNA5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1055T>A r.(?) p.(Phe352Tyr) Unknown - VUS g.5154368T>A - KCNA5(NM_002234.4):c.1055T>A (p.F352Y) - KCNA5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1056C>A r.(?) p.(Phe352Leu) Unknown - VUS g.5154369C>A - KCNA5(NM_002234.4):c.1056C>A (p.F352L) - KCNA5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1149T>C r.(?) p.(Gly383=) Unknown - benign g.5154462T>C g.5045296T>C KCNA5(NM_002234.4):c.1149T>C (p.G383=) - KCNA5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1149T>C r.(?) p.(Gly383=) Unknown - benign g.5154462T>C g.5045296T>C KCNA5(NM_002234.4):c.1149T>C (p.G383=) - KCNA5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1150G>A r.(?) p.(Gly384Arg) Unknown - benign g.5154463G>A g.5045297G>A KCNA5(NM_002234.4):c.1150G>A (p.G384R) - KCNA5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1150G>A r.(?) p.(Gly384Arg) Unknown - VUS g.5154463G>A g.5045297G>A KCNA5(NM_002234.4):c.1150G>A (p.G384R) - KCNA5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1179C>G r.(?) p.(Ala393=) Unknown - likely benign g.5154492C>G g.5045326C>G KCNA5(NM_002234.4):c.1179C>G (p.A393=) - KCNA5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1354G>A r.(?) p.(Val452Ile) Unknown - VUS g.5154667G>A - KCNA5(NM_002234.4):c.1354G>A (p.V452I) - KCNA5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1425G>T r.(?) p.(Val475=) Unknown - benign g.5154738G>T g.5045572G>T KCNA5(NM_002234.4):c.1425G>T (p.V475=) - KCNA5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1473T>C r.(?) p.(Val491=) Unknown - benign g.5154786T>C - KCNA5(NM_002234.4):c.1473T>C (p.V491=) - KCNA5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1497G>A r.(?) p.(Leu499=) Unknown - benign g.5154810G>A g.5045644G>A KCNA5(NM_002234.4):c.1497G>A (p.L499=) - KCNA5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1580C>T r.(?) p.(Thr527Met) Parent #1 - VUS g.5154893C>T g.5045727C>T - - KCNA5_000028 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908591 Germline - 3/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+?/. - c.1580C>T r.(?) p.(Thr527Met) Unknown - likely pathogenic g.5154893C>T - KCNA5(NM_002234.4):c.1580C>T (p.T527M) - KCNA5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1595C>T r.(?) p.(Pro532Leu) Unknown - likely benign g.5154908C>T - KCNA5(NM_002234.4):c.1595C>T (p.P532L) - KCNA5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1596G>A r.(?) p.(Pro532=) Unknown - benign g.5154909G>A g.5045743G>A KCNA5(NM_002234.4):c.1596G>A (p.P532=) - KCNA5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1596G>A r.(?) p.(Pro532=) Unknown - likely benign g.5154909G>A - KCNA5(NM_002234.4):c.1596G>A (p.P532=) - KCNA5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1660C>T r.(?) p.(Arg554Trp) Unknown - likely benign g.5154973C>T g.5045807C>T KCNA5(NM_002234.4):c.1660C>T (p.R554W) - KCNA5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1660C>T r.(?) p.(Arg554Trp) Unknown - VUS g.5154973C>T - KCNA5(NM_002234.4):c.1660C>T (p.R554W) - KCNA5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1672G>A r.(?) p.(Gly558Arg) Unknown - likely benign g.5154985G>A g.5045819G>A - - KCNA5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1729C>T r.(?) p.(Arg577*) Unknown - VUS g.5155042C>T - KCNA5(NM_002234.3):c.1729C>T (p.R577*) - KCNA5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1733G>A r.(?) p.(Arg578Lys) Unknown - benign g.5155046G>A g.5045880G>A KCNA5(NM_002234.3):c.1733G>A (p.(Arg578Lys)), KCNA5(NM_002234.4):c.1733G>A (p.R578K) - KCNA5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1733G>A r.(?) p.(Arg578Lys) Unknown - likely benign g.5155046G>A g.5045880G>A KCNA5(NM_002234.3):c.1733G>A (p.(Arg578Lys)), KCNA5(NM_002234.4):c.1733G>A (p.R578K) - KCNA5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1733G>A r.(?) p.(Arg578Lys) Parent #1 - benign g.5155046G>A g.5045880G>A - - KCNA5_000017 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12720445 Germline - 4/2776 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-?/. - c.1733G>A r.(?) p.(Arg578Lys) Unknown - likely benign g.5155046G>A - KCNA5(NM_002234.3):c.1733G>A (p.(Arg578Lys)), KCNA5(NM_002234.4):c.1733G>A (p.R578K) - KCNA5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1790G>A r.(?) p.(Arg597Gln) Unknown - VUS g.5155103G>A g.5045937G>A KCNA5(NM_002234.4):c.1790G>A (p.R597Q) - KCNA5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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