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HR c.732A>T ;(p.E244D)
Variant ID: 8-21985223-T-A
NM_005144.4(
HR
):c.732A>T;(p.E244D)
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:
Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Morimoto, S S; Lu, Q-W QW; Harada, K K; Takahashi-Yanaga, F F; Minakami, R R; Ohta, M M; Sasaguri, T T; Ohtsuki, I I
Publication Date: 2002-01-22
Variant appearance in text: HR: E244D
PubMed Link:
11773635
Variant Present in the following documents:
Main text
View BVdb publication page