DMD c.3021del ;(p.K1008Rfs*36)

Variant ID: X-32486756-TC-T

NM_004006.2(DMD):c.3021del;(p.K1008Rfs*36)

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:

Combining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies.

Frontiers In Neurology
Gaina, Gisela G; Vossen, Rolf H A M RHAM; Manole, Emilia E; Plesca, Doina Anca DA; Ionica, Elena E
Publication Date: 2021

Variant appearance in text: DMD: 3021delG; Lys1008Argfs*36
PubMed Link: 34950096
Variant Present in the following documents:
  • Main text
  • fneur-12-718396.pdf
View BVdb publication page