BRCA1 c.5193G>A ;(p.E1731=)

Variant ID: 17-41215350-C-T


This variant was identified in 2 publications

View GRCh38 version.


Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

Jama Network Open
Karam, Rachid R; Conner, Blair B; LaDuca, Holly H; McGoldrick, Kelly K; Krempely, Kate K; Richardson, Marcy E ME; Zimmermann, Heather H; Gutierrez, Stephanie S; Reineke, Patrick P; Hoang, Lily L; Allen, Kyle K; Yussuf, Amal A; Farber-Katz, Suzette S; Rana, Huma Q HQ; Culver, Samantha S; Lee, John J; Nashed, Sarah S; Toppmeyer, Deborah D; Collins, Debra D; Haynes, Ginger G; Pesaran, Tina T; Dolinsky, Jill S JS; Tippin Davis, Brigette B; Elliott, Aaron A; Chao, Elizabeth E
Publication Date: 2019-10-02

Variant appearance in text: BRCA1: 5193G>A; E1731E
PubMed Link: 31642931
Variant Present in the following documents:
  • jamanetwopen-2-e1913900-s001.pdf
View BVdb publication page

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10

Variant appearance in text: BRCA1: 5193G>A; E1731=
PubMed Link: 30209399
Variant Present in the following documents:
  • NIHMS1501643-supplement-2.xlsx, sheet 1
View BVdb publication page