PALB2 c.1743A>G ;(p.L581=)

Variant ID: 16-23641732-T-C

NM_024675.3(PALB2):c.1743A>G;(p.L581=)

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: 1743A>G; Leu581=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer.

Gastroenterology
Tischkowitz, Marc D MD; Sabbaghian, Nelly N; Hamel, Nancy N; Borgida, Ayelet A; Rosner, Chaim C; Taherian, Nassim N; Srivastava, Archana A; Holter, Spring S; Rothenmund, Heidi H; Ghadirian, Parviz P; Foulkes, William D WD; Gallinger, Steven S
Publication Date: 2009-09

Variant appearance in text: PALB2: 1743A>G; L581L
PubMed Link: 19635604
Variant Present in the following documents:
  • Main text
View BVdb publication page