BRCA2 c.951A>G ;(p.T317=)

Variant ID: 13-32906566-A-G

NM_000059.3(BRCA2):c.951A>G;(p.T317=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress.

Nature Communications
Tomaszowski, Karl-Heinz KH; Roy, Sunetra S; Guerrero, Carolina C; Shukla, Poojan P; Keshvani, Caezaan C; Chen, Yue Y; Ott, Martina M; Wu, Xiaogang X; Zhang, Jianhua J; DiNardo, Courtney D CD; Schindler, Detlev D; Schlacher, Katharina K
Publication Date: 2023-03-11

Variant appearance in text: BRCA2: 951A>G
PubMed Link: 36906610
Variant Present in the following documents:
  • 41467_2023_36933_MOESM1_ESM.pdf
View BVdb publication page



Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

Blood
Chandrasekharappa, Settara C SC; Lach, Francis P FP; Kimble, Danielle C DC; Kamat, Aparna A; Teer, Jamie K JK; Donovan, Frank X FX; Flynn, Elizabeth E; Sen, Shurjo K SK; Thongthip, Supawat S; Sanborn, Erica E; Smogorzewska, Agata A; Auerbach, Arleen D AD; Ostrander, Elaine A EA; ,
Publication Date: 2013-05-30

Variant appearance in text: FANCD1: 951A>G
PubMed Link: 23613520
Variant Present in the following documents:
  • Main text
View BVdb publication page