DMD c.9935A>C ;(p.K3312T)

Variant ID: X-31200894-T-G

NM_004006.2(DMD):c.9935A>C;(p.K3312T)

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:

MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.

Bmc Medical Genetics
Yang, Juan J; Li, Shao Y SY; Li, Ya Q YQ; Cao, Ji Q JQ; Feng, Shan W SW; Wang, Yan Y YY; Zhan, Yi X YX; Yu, Chang S CS; Chen, Fei F; Li, Jing J; Sun, Xiao F XF; Zhang, Cheng C
Publication Date: 2013-03-01

Variant appearance in text: DMD: Lys3312Thr
PubMed Link: 23453023
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-29.pdf
View BVdb publication page