PALB2 c.807T>C ;(p.G269=)

Variant ID: 16-23647060-A-G

NM_024675.3(PALB2):c.807T>C;(p.G269=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PALB2: 807T>C; Gly269=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



PALB2 mutations in German and Russian patients with bilateral breast cancer.

Breast Cancer Research And Treatment
Bogdanova, Natalia N; Sokolenko, Anna P AP; Iyevleva, Aglaya G AG; Abysheva, Svetlana N SN; Blaut, Magda M; Bremer, Michael M; Christiansen, Hans H; Rave-Fränk, Margret M; Dörk, Thilo T; Imyanitov, Evgeny N EN
Publication Date: 2011-04

Variant appearance in text: PALB2: G269G
PubMed Link: 21165770
Variant Present in the following documents:
  • Main text
  • 10549_2010_Article_1290.pdf
View BVdb publication page