HR c.732A>C ;(p.E244D)

Variant ID: 8-21985223-T-G

NM_005144.4(HR):c.732A>C;(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