DMD c.10019G>C ;(p.C3340S)

Variant ID: X-31198554-C-G

NM_004006.2(DMD):c.10019G>C;(p.C3340S)

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:

ZZ domain of dystrophin and utrophin: topology and mapping of a beta-dystroglycan interaction site.

The Biochemical Journal
Hnia, Karim K; Zouiten, Dora D; Cantel, Sonia S; Chazalette, Delphine D; Hugon, Gérald G; Fehrentz, Jean-Alain JA; Masmoudi, Ahmed A; Diment, Ann A; Bramham, Janice J; Mornet, Dominique D; Winder, Steve J SJ
Publication Date: 2007-02-01

Variant appearance in text: DMD: C3340S
PubMed Link: 17009962
Variant Present in the following documents:
  • Main text
View BVdb publication page