MYH7 c.4788G>C ;(p.S1596=)

Variant ID: 14-23885378-C-G

NM_000257.2(MYH7):c.4788G>C;(p.S1596=)

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:

Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.

Cardiovascular Journal Of Africa
Ntusi, Ntobeko A NA; Shaboodien, Gasnat G; Badri, Motasim M; Gumedze, Freedom F; Mayosi, Bongani M BM
Publication Date: 2016

Variant appearance in text: rs146858930
PubMed Link: 27841901
Variant Present in the following documents:
  • Main text
  • cvja-27-152.pdf
View BVdb publication page