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KCNH2 c.3234C>A ;(p.Y1078*)
Variant ID: 7-150644061-G-T
NM_000238.3(
KCNH2
):c.3234C>A;(p.Y1078*)
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:
Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndrome.
Gene
Gong, Qiuming Q; Stump, Matthew R MR; Zhou, Zhengfeng Z
Publication Date: 2014-04-15
Variant appearance in text: LQT2: Y1078*
PubMed Link:
24530480
Variant Present in the following documents:
Main text
View BVdb publication page