DMD c.3728del ;(p.L1243Qfs*12)

Variant ID: X-32466631-TA-T

NM_004006.2(DMD):c.3728del;(p.L1243Qfs*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 and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.

Plos One
Yun, UnKyu U; Lee, Seung-Ah SA; Choi, Won Ah WA; Kang, Seong-Woong SW; Seo, Go Hun GH; Lee, Jung Hwan JH; Park, Goeun G; Lee, Sujee S; Choi, Young-Chul YC; Park, Hyung Jun HJ
Publication Date: 2021

Variant appearance in text: DMD: 3728delT; L1243fs
PubMed Link: 34297739
Variant Present in the following documents:
  • pone.0255011.s001.pdf
View BVdb publication page