DMD c.8027+2T>C

Variant ID: X-31676105-A-G

NM_004006.2(DMD):c.8027+2T>C

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:

The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted.

Current Genomics
Chen, Jian-Min JM; Lin, Jin-Huan JH; Masson, Emmanuelle E; Liao, Zhuan Z; Férec, Claude C; Cooper, David N DN; Hayden, Matthew M
Publication Date: 2020-01

Variant appearance in text: DMD: 8027+2T>C
PubMed Link: 32655299
Variant Present in the following documents:
  • Main text
  • CG-21-56.pdf
View BVdb publication page