DMD c.100A>T ;(p.K34*)

Variant ID: X-32867931-T-A

NM_004006.2(DMD):c.100A>T;(p.K34*)

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:

Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy.

Bmc Medical Genetics
Kong, Xiangdong X; Zhong, Xingjian X; Liu, Lina L; Cui, Siying S; Yang, Yuxia Y; Kong, Lingrong L
Publication Date: 2019-08-14

Variant appearance in text: DMD: 100A>T; Lys34*
PubMed Link: 31412794
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_873.pdf
View BVdb publication page