DMD c.2662G>T ;(p.E888*)

Variant ID: X-32503177-C-A

NM_004006.2(DMD):c.2662G>T;(p.E888*)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Targeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations.

The Indian Journal Of Medical Research
Aravind, Sankaramoorthy S; Ashley, Berty B; Mannan, Ashraf A; Ganapathy, Aparna A; Ramesh, Keerthi K; Ramachandran, Aparna A; Nongthomba, Upendra U; Shastry, Arun A
Publication Date: 2019-09

Variant appearance in text: DMD: Glu888*
PubMed Link: 31719299
Variant Present in the following documents:
  • IJMR-150-282.pdf
View BVdb publication page


Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.

Plos One
Janghra, Narinder N; Morgan, Jennifer E JE; Sewry, Caroline A CA; Wilson, Francis X FX; Davies, Kay E KE; Muntoni, Francesco F; Tinsley, Jonathon J
Publication Date: 2016

Variant appearance in text: DMD: 2662G>T; Glu888X
PubMed Link: 26974331
Variant Present in the following documents:
  • Main text
  • pone.0150818.pdf
View BVdb publication page