DMD c.5606G>A ;(p.R1869K)

Variant ID: X-32361384-C-T

NM_004006.2(DMD):c.5606G>A;(p.R1869K)

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: R1869K
PubMed Link: 19959795
Variant Present in the following documents:
  • Main text
View BVdb publication page