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KCNH2 c.3059C>T ;(p.P1020L)
Variant ID: 7-150644509-G-A
NM_000238.3(
KCNH2
):c.3059C>T;(p.P1020L)
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: rs41313761
PubMed Link:
19214780
Variant Present in the following documents:
Main text
View BVdb publication page