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KCNH2 c.370A>G ;(p.M124V)
Variant ID: 7-150656762-T-C
NM_000238.3(
KCNH2
):c.370A>G;(p.M124V)
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:
Early LQT2 nonsense mutation generates N-terminally truncated hERG channels with altered gating properties by the reinitiation of translation.
Journal Of Molecular And Cellular Cardiology
Stump, Matthew R MR; Gong, Qiuming Q; Packer, Jonathan D JD; Zhou, Zhengfeng Z
Publication Date: 2012-11
Variant appearance in text: LQT2: M124V
PubMed Link:
22964610
Variant Present in the following documents:
Main text
View BVdb publication page