MYBPC3 c.2479C>T ;(p.Q827*)

Variant ID: 11-47359065-G-A

NM_000256.3(MYBPC3):c.2479C>T;(p.Q827*)

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:

Impact of systolic dysfunction in genotyped hypertrophic cardiomyopathy.

Clinical Cardiology
Fujino, Noboru N; Konno, Tetsuo T; Hayashi, Kenshi K; Hodatsu, Akihiko A; Fujita, Takashi T; Tsuda, Toyonobu T; Nagata, Yoji Y; Kawashiri, Masa-aki MA; Ino, Hidekazu H; Yamagishi, Masakazu M
Publication Date: 2013-03

Variant appearance in text: MYBPC3: Gln827ter
PubMed Link: 23197398
Variant Present in the following documents:
  • Main text
View BVdb publication page