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KCNH2 c.1982C>T ;(p.A661V)
Variant ID: 7-150648172-G-A
NM_000238.3(
KCNH2
):c.1982C>T;(p.A661V)
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:
Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy.
Heartrhythm Case Reports
Oomen, Ad W G J AWGJ; Jones, Katherine K; Yeates, Laura L; Semsarian, Christopher C; Ingles, Jodie J; Sy, Raymond W RW
Publication Date: 2018-07
Variant appearance in text: KCNH2: 1982C>T; Ala661Val
PubMed Link:
30023281
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page