DMD c.2869dup ;(p.Q957Pfs*12)

Variant ID: X-32490360-T-TG

NM_004006.2(DMD):c.2869dup;(p.Q957Pfs*12)

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:

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.

Orphanet Journal Of Rare Diseases
Liang, Wen-Chen WC; Jong, Yuh-Jyh YJ; Wang, Chien-Hua CH; Wang, Chen-Hua CH; Tian, Xia X; Chen, Wan-Zi WZ; Kan, Tzu-Min TM; Minami, Narihiro N; Nishino, Ichizo I; Wong, Lee-Jun C LC
Publication Date: 2020-06-23

Variant appearance in text: DMD: Gln957Profs*12
PubMed Link: 32576226
Variant Present in the following documents:
  • Main text
  • 13023_2020_Article_1445.pdf
View BVdb publication page