BRCA2 c.1219_1221del ;(p.Q407del)

Variant ID: 13-32906834-CCAG-C

NM_000059.3(BRCA2):c.1219_1221del;(p.Q407del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).

Journal Of Medical Genetics
Hauke, Jan J; Harter, Philipp P; Ernst, Corinna C; Burges, Alexander A; Schmidt, Sandra S; Reuss, Alexander A; Borde, Julika J; De Gregorio, Nikolaus N; Dietrich, Dimo D; El-Balat, Ahmed A; Kayali, Mohamad M; Gevensleben, Heidrun H; Hilpert, Felix F; Altmüller, Janine J; Heimbach, André A; Meier, Werner W; Schoemig-Markiefka, Birgid B; Thiele, Holger H; Kimmig, Rainer R; Nürnberg, Peter P; Kast, Karin K; Richters, Lisa L; Sehouli, Jalid J; Schmutzler, Rita K RK; Hahnen, Eric E
Publication Date: 2022-03

Variant appearance in text: BRCA2: Gln407del
PubMed Link: 33273034
Variant Present in the following documents:
  • jmedgenet-2020-107353supp001.pdf
View BVdb publication page