FBN1 c.247C>T ;(p.P83S)

Variant ID: 15-48905207-G-A

NM_000138.4(FBN1):c.247C>T;(p.P83S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; BalmaƱa, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: FBN1: P83S
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of the genomic features and expressed fusion genes in micropapillary carcinomas of the breast.

The Journal Of Pathology
Natrajan, Rachael R; Wilkerson, Paul M PM; MarchiĆ², Caterina C; Piscuoglio, Salvatore S; Ng, Charlotte K Y CK; Wai, Patty P; Lambros, Maryou B MB; Samartzis, Eleftherios P EP; Dedes, Konstantin J KJ; Frankum, Jessica J; Bajrami, Ilirjana I; Kopec, Alicja A; Mackay, Alan A; A'hern, Roger R; Fenwick, Kerry K; Kozarewa, Iwanka I; Hakas, Jarle J; Mitsopoulos, Costas C; Hardisson, David D; Lord, Christopher J CJ; Kumar-Sinha, Chandan C; Ashworth, Alan A; Weigelt, Britta B; Sapino, Anna A; Chinnaiyan, Arul M AM; Maher, Christopher A CA; Reis-Filho, Jorge S JS
Publication Date: 2014-04

Variant appearance in text: FBN1: P83S
PubMed Link: 24395524
Variant Present in the following documents:
  • Main text
View BVdb publication page