All variants in the KCNJ11 gene

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

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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.78C>A r.(?) p.(Tyr26*) - pathogenic g.17409561G>T g.17388014G>T - - KCNJ11_000099 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
Legend   How to query