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KCNQ1 c.919_921delinsATC ;(p.V307I)
Variant ID: 11-2594214-GTG-ATC
NM_000218.2(
KCNQ1
):c.919_921delinsATC;(p.V307I)
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:
Structural models for the KCNQ1 voltage-gated potassium channel.
Biochemistry
Smith, Jarrod A JA; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2007-12-11
Variant appearance in text: KCNQ1: Val307Ile
PubMed Link:
17999538
Variant Present in the following documents:
Main text
View BVdb publication page