DMD c.5285del ;(p.H1762Lfs*19)

Variant ID: X-32380945-AT-A

NM_004006.2(DMD):c.5285del;(p.H1762Lfs*19)

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:

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: 5285delA; His1762Leufs*19
PubMed Link: 31919629
Variant Present in the following documents:
  • Main text
  • 439_2019_Article_2107.pdf
View BVdb publication page