NF1 c.2032C>A ;(p.P678T)

Variant ID: 17-29553483-C-A

NM_001042492.2(NF1):c.2032C>A;(p.P678T)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports
Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2022-03-09

Variant appearance in text: NF1: 2032C>A
PubMed Link: 35264596
Variant Present in the following documents:
  • 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

Ebiomedicine
Isakov, Ofer O; Wallis, Deeann D; Evans, D Gareth DG; Ben-Shachar, Shay S
Publication Date: 2018-10

Variant appearance in text: rs758691069
PubMed Link: 30274822
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine
Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M
Publication Date: 2018-04-09

Variant appearance in text: NF1: P678T
PubMed Link: 29642553
Variant Present in the following documents:
  • Main text
  • jpm-08-00013.pdf
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: NF1: 2032C>A; Pro678Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page