MYH7 c.4309G>C ;(p.A1437P)

Variant ID: 14-23886756-C-G

NM_000257.2(MYH7):c.4309G>C;(p.A1437P)

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:

Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.

Bmc Medical Genetics
Feinstein-Linial, Miora M; Buvoli, Massimo M; Buvoli, Ada A; Sadeh, Menachem M; Dabby, Ron R; Straussberg, Rachel R; Shelef, Ilan I; Dayan, Daniel D; Leinwand, Leslie Anne LA; Birk, Ohad S OS
Publication Date: 2016-08-12

Variant appearance in text: MYH7: 4309G>C
PubMed Link: 27519903
Variant Present in the following documents:
  • Main text
  • 12881_2016_Article_315.pdf
View BVdb publication page