All variants in the KCNJ10 gene

Information The variants shown are described using the NM_002241.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/+ 2 c.1042C>T r.(?) p.(Arg348Cys) - pathogenic g.160011281G>A g.160041491G>A - - KCNJ10_000017 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Yang 2009 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
?/. - c.1042C>T r.(?) p.(Arg348Cys) - VUS g.160011281G>A g.160041491G>A - - KCNJ10_000017 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137853074 Germline - 1/2794 individuals - 0 - Mohammed Faruq
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