KCNH2 c.1503C>G ;(p.D501E)

Variant ID: 7-150649567-G-C

NM_000238.3(KCNH2):c.1503C>G;(p.D501E)

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:

A 26-year-old woman with recurrent loss of consciousness.

Journal Of General Internal Medicine
Benson, Mark R MR; Kotagal, Vikas V; Oral, Hakan H
Publication Date: 2011-12

Variant appearance in text: LQT2: Asp501Glu
PubMed Link: 21739297
Variant Present in the following documents:
  • Main text
View BVdb publication page