APC c.7415C>T ;(p.A2472V)

Variant ID: 5-112178706-C-T

NM_000038.5(APC):c.7415C>T;(p.A2472V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.

Molecular Medicine (Cambridge, Mass.)
Tavano, Francesca F; Gioffreda, Domenica D; Fontana, Andrea A; Palmieri, Orazio O; Gentile, Annamaria A; Latiano, Tiziana T; Latiano, Anna A; Latiano, Tiziana Pia TP; Scaramuzzi, Matteo M; Maiello, Evaristo E; Bazzocchi, Francesca F; Perri, Francesco F
Publication Date: 2023-01-30

Variant appearance in text: APC: 7415C>T; Ala2472Val
PubMed Link: 36717774
Variant Present in the following documents:
  • 10020_2023_600_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: APC: 7415C>T; Ala2472Val
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page