HR c.956C>T ;(p.P319L)

Variant ID: 8-21984999-G-A

NM_005144.4(HR):c.956C>T;(p.P319L)

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:

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Plos One
Bakhchane, Amina A; Charif, Majida M; Bousfiha, Amale A; Boulouiz, Redouane R; Nahili, Halima H; Rouba, Hassan H; Charoute, Hicham H; Lenaers, Guy G; Barakat, Abdelhamid A
Publication Date: 2017

Variant appearance in text: HR: 956C>T; Pro319Leu
PubMed Link: 28472130
Variant Present in the following documents:
  • pone.0176516.s002.xlsx, sheet 1
View BVdb publication page