DMD c.2270C>G ;(p.S757*)

Variant ID: X-32536147-G-C

NM_004006.2(DMD):c.2270C>G;(p.S757*)

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:

Identifying Potential Neoantigens for Cervical Cancer Immunotherapy Using Comprehensive Genomic Variation Profiling of Cervical Intraepithelial Neoplasia and Cervical Cancer.

Frontiers In Oncology
Bao, Chaohui C; An, Na N; Xie, Hong H; Xu, Ling L; Zhou, Boping B; Luo, Jun J; Huang, Wanqiu W; Huang, Jian J
Publication Date: 2021

Variant appearance in text: DMD: S757X
PubMed Link: 34221990
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page


Theragnosis for Duchenne Muscular Dystrophy.

Frontiers In Pharmacology
Luce, Leonela L; Carcione, Micaela M; Mazzanti, Chiara C; Buonfiglio, Paula I PI; Dalamón, Viviana V; Mesa, Lilia L; Dubrovsky, Alberto A; Corderí, José J; Giliberto, Florencia F
Publication Date: 2021

Variant appearance in text: DMD: 2270C>G; Ser757*
PubMed Link: 34149409
Variant Present in the following documents:
  • Main text
  • fphar-12-648390.pdf
View BVdb publication page