MYBPC3 c.646G>T ;(p.A216S)

Variant ID: 11-47371333-C-A

NM_000256.3(MYBPC3):c.646G>T;(p.A216S)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: MYBPC3: A216S
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page


Estimating the mutational load for cardiovascular diseases in Pakistani population.

Plos One
Shakeel, Muhammad M; Irfan, Muhammad M; Khan, Ishtiaq Ahmad IA
Publication Date: 2018

Variant appearance in text: rs201098973
PubMed Link: 29420653
Variant Present in the following documents:
  • pone.0192446.s009.xlsx, sheet 2
View BVdb publication page