KCNH2 c.1504A>C ;(p.M502L)

Variant ID: 7-150649566-T-G

NM_000238.3(KCNH2):c.1504A>C;(p.M502L)

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:

Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand.

Plos One
Marcondes, Luciana L; Crawford, Jackie J; Earle, Nikki N; Smith, Warren W; Hayes, Ian I; Morrow, Paul P; Donoghue, Tom T; Graham, Amanda A; Love, Donald D; Skinner, Jonathan R JR; ,
Publication Date: 2018

Variant appearance in text: KCNH2: 1504A>C; M502L
PubMed Link: 29672598
Variant Present in the following documents:
  • Main text
  • pone.0196078.pdf
View BVdb publication page