DMD c.7523A>G ;(p.E2508G)

Variant ID: X-31792096-T-C

NM_004006.2(DMD):c.7523A>G;(p.E2508G)

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:

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Muscle & Nerve
Reddy, Hemakumar M HM; Hamed, Sherifa A SA; Lek, Monkol M; Mitsuhashi, Satomi S; Estrella, Elicia E; Jones, Michael D MD; Mahoney, Lane J LJ; Duncan, Anna R AR; Cho, Kyung-Ah KA; Macarthur, Daniel G DG; Kunkel, Louis M LM; Kang, Peter B PB
Publication Date: 2016-10

Variant appearance in text: DMD: Glu2508Gly
PubMed Link: 26934379
Variant Present in the following documents:
  • Main text
View BVdb publication page