KCNH2 c.3052C>T ;(p.P1018S)

Variant ID: 7-150644516-G-A

NM_000238.3(KCNH2):c.3052C>T;(p.P1018S)

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:

In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

Genomic Medicine
Sudandiradoss, C C; Sethumadhavan, Rao R
Publication Date: 2008-12

Variant appearance in text: rs41313764
PubMed Link: 19214780
Variant Present in the following documents:
  • Main text
View BVdb publication page