DMD c.6552dup ;(p.L2185Ifs*38)

Variant ID: X-31986517-A-AT

NM_004006.2(DMD):c.6552dup;(p.L2185Ifs*38)

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:

Dystrophin-deficient muscular dystrophy in a Toy Poodle with a single base pair insertion in exon 45 of the Duchenne muscular dystrophy gene.

The Journal Of Veterinary Medical Science
Sakai, Kosei K; Motegi, Tomoki T; Chambers, James Ken JK; Uchida, Kazuyuki K; Nishida, Hidetaka H; Shimamura, Shunsuke S; Tani, Hiroyuki H; Shimada, Terumasa T; Furuya, Masaru M
Publication Date: 2022-04-13

Variant appearance in text: DMD: 6547_6548insA
PubMed Link: 35135937
Variant Present in the following documents:
  • Main text
  • jvms-84-502.pdf
View BVdb publication page