DMD c.1994_1995delinsAG ;(p.I665K)

Variant ID: X-32563449-AA-CT

NM_004006.2(DMD):c.1994_1995delinsAG;(p.I665K)

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:

Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.

Human Genomics
Elhawary, Nasser A NA; Jiffri, Essam H EH; Jambi, Samira S; Mufti, Ahmad H AH; Dannoun, Anas A; Kordi, Hassan H; Khogeer, Asim A; Jiffri, Osama H OH; Elhawary, Abdelrahman N AN; Tayeb, Mohammed T MT
Publication Date: 2018-04-10

Variant appearance in text: DMD: Ile665Lys
PubMed Link: 29631625
Variant Present in the following documents:
  • Main text
  • 40246_2018_Article_152.pdf
View BVdb publication page