DMD c.4189A>G ;(p.I1397V)

Variant ID: X-32429913-T-C

NM_004006.2(DMD):c.4189A>G;(p.I1397V)

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 characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency.

Molecular Medicine Reports
Wang, Chenyi C; Lv, Haihong H; Xu, Xia X; Ma, Yuping Y; Li, Qian Q
Publication Date: 2020-11

Variant appearance in text: DMD: 4189A>G; I1397V
PubMed Link: 33000234
Variant Present in the following documents:
  • Main text
  • mmr-22-05-4396.pdf
View BVdb publication page