MYH7 c.161G>T ;(p.R54L)

Variant ID: 14-23902781-C-A

NM_000257.2(MYH7):c.161G>T;(p.R54L)

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:

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

International Journal Of Molecular Medicine
Cecconi, Massimiliano M; Parodi, Maria I MI; Formisano, Francesco F; Spirito, Paolo P; Autore, Camillo C; Musumeci, Maria B MB; Favale, Stefano S; Forleo, Cinzia C; Rapezzi, Claudio C; Biagini, Elena E; Davì, Sabrina S; Canepa, Elisabetta E; Pennese, Loredana L; Castagnetta, Mauro M; Degiorgio, Dario D; Coviello, Domenico A DA
Publication Date: 2016-10

Variant appearance in text: MYH7: 161G>T; Arg54Leu
PubMed Link: 27600940
Variant Present in the following documents:
  • Main text
  • ijmm-38-04-1111.pdf
View BVdb publication page