All variants in the KCNJ10 gene

Information The variants shown are described using the NM_002241.4 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     
+/+ 2 c.889C>T r.(?) p.(Arg297Cys) - pathogenic g.160011434G>A g.160041644G>A - - KCNJ10_000018 - MORL Deafness Variation Database, PubMed: Freudenthal 2011, PubMed: Scholl 2009, PubMed: Sala-Rabanal 2010, PubMed: Cross 2013 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
Legend   How to query