KCNH2 c.1721T>G ;(p.M574R)

Variant ID: 7-150648760-A-C

NM_000238.3(KCNH2):c.1721T>G;(p.M574R)

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:

Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Nature Communications
Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT
Publication Date: 2014-11-24

Variant appearance in text: LQT2: M574R
PubMed Link: 25417810
Variant Present in the following documents:
  • Main text
  • nihms634670.pdf
View BVdb publication page