DMD c.2430_2443del ;(p.R811Lfs*6)

DMD c.2430_2443del ;(p.R811Lfs*6)

Variant ID: X-32509573-AATTCGATCCACCGG-A

NM_004006.2(DMD):c.2430_2443del;(p.R811Lfs*6)

This variant was identified in 2 publications

View GRCh38 version.

Variant-Specific Resource Links:

gnomAD v2.1.1

Mutalizer Name Checker

Google

UCSC Genome Browser

ClinVar

dbSNP

Publications:

Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.

Journal Of Human Genetics

Okubo, Mariko M; Minami, Narihiro N; Goto, Kanako K; Goto, Yuichi Y; Noguchi, Satoru S; Mitsuhashi, Satomi S; Nishino, Ichizo I

Publication Date: 2017-10

Variant appearance in text: DMD: 2430_2443delCCGGTGGATCGAAT; Arg811Leufs*6

PubMed Link: 28943641

Variant Present in the following documents:

10038_2017_Article_BFjhg201754.pdf

View BVdb publication page

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.

Journal Of Human Genetics

Okubo, Mariko M; Minami, Narihiro N; Goto, Kanako K; Goto, Yuichi Y; Noguchi, Satoru S; Mitsuhashi, Satomi S; Nishino, Ichizo I

Publication Date: 2016-06

Variant appearance in text: DMD: 2430_2443delCCGGTGGATCGAAT; Arg811Leufs*6

PubMed Link: 26911353

Variant Present in the following documents:

Main text

jhg20167a.pdf

View BVdb publication page