MYBPC3 c.3776A>G ;(p.Q1259R)

Variant ID: 11-47353661-T-C

NM_000256.3(MYBPC3):c.3776A>G;(p.Q1259R)

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:

Sex-specific cardiac remodeling in early and advanced stages of hypertrophic cardiomyopathy.

Plos One
Nijenkamp, Louise L A M LLAM; Bollen, Ilse A E IAE; Niessen, Hans W M HWM; Dos Remedios, Cris G CG; Michels, Michelle M; Poggesi, Corrado C; Ho, Carolyn Y CY; Kuster, Diederik W D DWD; van der Velden, Jolanda J
Publication Date: 2020

Variant appearance in text: MYBPC3: Q1259R
PubMed Link: 32369506
Variant Present in the following documents:
  • Main text
  • pone.0232427.pdf
View BVdb publication page