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.
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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.602G>A r.(?) p.(Arg201His) - pathogenic g.17409037C>T g.17387490C>T - - KCNJ11_000115 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80356624 Germline - 1/2794 individuals - 0 - Mohammed Faruq
+/. - c.602G>A r.(?) p.(Arg201His) - pathogenic g.17409037C>T - - - KCNJ11_000115 - - - - De novo - - - 0 - Sha Hong
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