All variants in the KCNJ11 gene

Information The variants shown are described using the NM_000525.3 transcript reference sequence.

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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     
+/. 1 c.160C>T r.(?) p.(Arg54Cys) - pathogenic g.17409479G>A g.17387932G>A - - KCNJ11_000089 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
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