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     
+/. - c.170C>T r.(?) p.(Thr57Ile) ACMG pathogenic g.160012153G>A g.160042363G>A - - KCNJ10_000001 - PubMed: Trujillano 2017 - - Germline - - - 0 - Daniel Trujillano
+/+ 2 c.170C>T r.(?) p.(Thr57Ile) - pathogenic g.160012153G>A g.160042363G>A - - KCNJ10_000001 - MORL Deafness Variation Database, PubMed: Scholl 2012 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
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