KCNQ1 c.685G>A ;(p.G229S)

Variant ID: 11-2593244-G-A

NM_000218.2(KCNQ1):c.685G>A;(p.G229S)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10

Variant appearance in text: KCNQ1: 685G>A
PubMed Link: 23820649
Variant Present in the following documents:
  • Main text
View BVdb publication page