KCNQ1 c.1354_1356delinsTGT ;(p.R452C)

Variant ID: 11-2610045-CGG-TGT

NM_000218.2(KCNQ1):c.1354_1356delinsTGT;(p.R452C)

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:

Sudden Unexplained Nocturnal Death Syndrome: The Hundred Years' Enigma.

Journal Of The American Heart Association
Zheng, Jingjing J; Zheng, Da D; Su, Terry T; Cheng, Jianding J
Publication Date: 2018-03-03

Variant appearance in text: KCNQ1: R452C
PubMed Link: 29502107
Variant Present in the following documents:
  • Main text
  • JAH3-7-e007837-s001.pdf
View BVdb publication page