FBN1 c.5575A>T ;(p.I1859L)

Variant ID: 15-48741061-T-A

NM_000138.4(FBN1):c.5575A>T;(p.I1859L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic analysis of microglandular adenosis and acinic cell carcinomas of the breast provides evidence for the existence of a low-grade triple-negative breast neoplasia family.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Geyer, Felipe C FC; Berman, Samuel H SH; MarchiĆ², Caterina C; Burke, Kathleen A KA; Guerini-Rocco, Elena E; Piscuoglio, Salvatore S; Ng, Charlotte Ky CK; Pareja, Fresia F; Wen, Hannah Y HY; Hodi, Zoltan Z; Schnitt, Stuart J SJ; Rakha, Emad A EA; Ellis, Ian O IO; Norton, Larry L; Weigelt, Britta B; Reis-Filho, Jorge S JS
Publication Date: 2017-01

Variant appearance in text: FBN1: Ile1859Leu
PubMed Link: 27713419
Variant Present in the following documents:
  • NIHMS807185-supplement-8.pdf
View BVdb publication page