KCNQ1 c.395_396delinsGG ;(p.I132R)

Variant ID: 11-2549166-TC-GG

NM_000218.2(KCNQ1):c.395_396delinsGG;(p.I132R)

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:

EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.

Frontiers In Physiology
Lo, Jacky J; Forst, Anna-Lena AL; Warth, Richard R; Zdebik, Anselm A AA
Publication Date: 2022

Variant appearance in text: KCNQ1: I132R
PubMed Link: 35370765
Variant Present in the following documents:
  • Main text
  • fphys-13-852674.pdf
View BVdb publication page