DMD c.1429G>T ;(p.E477*)

Variant ID: X-32632473-C-A

NM_004006.2(DMD):c.1429G>T;(p.E477*)

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:

Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: DMD: 1429G>T
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page


Acute recurrent rhabdomyolysis in a Chinese boy associated with a novel compound heterozygous LPIN1 variant: a case report.

Bmc Neurology
Tong, Ke K; Yu, Geng-Sheng GS
Publication Date: 2021-01-29

Variant appearance in text: DMD: Glu477X
PubMed Link: 33514355
Variant Present in the following documents:
  • Main text
  • 12883_2021_Article_2050.pdf
View BVdb publication page