All variants in the KCNJ11 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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.539C>T r.(?) p.(Thr180Ile) - VUS g.17409100G>A g.17387553G>A - - KCNJ11_000056 - De Franco et al 2019, submitted - - Germline - - - 0 - Thomas Laver
?/. 1 c.539C>T r.(?) p.(Thr180Ile) ACMG VUS g.17409100G>A - - - KCNJ11_000056 - - - - Germline - - - - - Cécile Saint-Martin
Legend   How to query