DMD c.10453_10454del ;(p.L3485Efs*5)

Variant ID: X-31187659-CAG-C

NM_004006.2(DMD):c.10453_10454del;(p.L3485Efs*5)

This variant was identified in 3 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.

Human Genetics
Okubo, Mariko M; Noguchi, Satoru S; Hayashi, Shinichiro S; Nakamura, Harumasa H; Komaki, Hirofumi H; Matsuo, Masafumi M; Nishino, Ichizo I
Publication Date: 2020-02

Variant appearance in text: DMD: 10453_10454delCT; Leu3485Glufs*5
PubMed Link: 31919629
Variant Present in the following documents:
  • Main text
  • 439_2019_Article_2107.pdf
View BVdb publication page


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: 10453_10454delCT; Leu3485Glufs*5
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: 10453_10454delCT; Leu3485Glufs*5
PubMed Link: 26911353
Variant Present in the following documents:
  • Main text
  • jhg20167a.pdf
View BVdb publication page