MYBPC3 c.3217C>T ;(p.R1073W)

Variant ID: 11-47354858-G-A

NM_000256.3(MYBPC3):c.3217C>T;(p.R1073W)

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:

MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.

Plos One
McNamara, James W JW; Li, Amy A; Lal, Sean S; Bos, J Martijn JM; Harris, Samantha P SP; van der Velden, Jolanda J; Ackerman, Michael J MJ; Cooke, Roger R; Dos Remedios, Cristobal G CG
Publication Date: 2017

Variant appearance in text: MYBPC3: R1073W
PubMed Link: 28658286
Variant Present in the following documents:
  • Main text
  • pone.0180064.s002.xlsx, sheet 1
  • pone.0180064.pdf
View BVdb publication page