MYH7 c.4652T>C ;(p.L1551P)

Variant ID: 14-23885514-A-G

NM_000257.2(MYH7):c.4652T>C;(p.L1551P)

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:

Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Negrão, Luís L; Machado, Rita R; Lourenço, Miguel M; Fernandez-Marmiesse, Ana A; Rebelo, Olinda O
Publication Date: 2020-03

Variant appearance in text: MYH7: 4652T>C
PubMed Link: 32607476
Variant Present in the following documents:
  • Main text
  • am-2020-01-24.pdf
View BVdb publication page