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DMD c.3420C>G ;(p.H1140Q)
Variant ID: X-32481568-G-C
NM_004006.2(
DMD
):c.3420C>G;(p.H1140Q)
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:
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
The Journal Of Molecular Diagnostics : Jmd
Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2010-01
Variant appearance in text: DMD: H1140Q
PubMed Link:
19959795
Variant Present in the following documents:
Main text
View BVdb publication page