DMD c.10465C>T ;(p.R3489C)

Variant ID: X-31187648-G-A

NM_004006.2(DMD):c.10465C>T;(p.R3489C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: DMD: R3489C; rs771240938
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: DMD: 10465C>T; Arg3489Cys
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.

Yonsei Medical Journal
Lee, Hyunjoo H; Lim, Joohee J; Shin, Jeong Eun JE; Eun, Ho Sun HS; Park, Min Soo MS; Park, Kook In KI; Namgung, Ran R; Lee, Jin Sung JS
Publication Date: 2019-11

Variant appearance in text: DMD: 10465C>T; Arg3489Cys
PubMed Link: 31637888
Variant Present in the following documents:
  • Main text
  • ymj-60-1061.pdf
View BVdb publication page