BRCA1 c.4093_4095del ;(p.L1365del)

Variant ID: 17-41243453-CTAA-C

NM_007294.3(BRCA1):c.4093_4095del;(p.L1365del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.

Plos One
Wappenschmidt, Barbara B; Becker, Alexandra A AA; Hauke, Jan J; Weber, Ute U; Engert, Stefanie S; Köhler, Juliane J; Kast, Karin K; Arnold, Norbert N; Rhiem, Kerstin K; Hahnen, Eric E; Meindl, Alfons A; Schmutzler, Rita K RK
Publication Date: 2012

Variant appearance in text: BRCA1: Leu1365del
PubMed Link: 23239986
Variant Present in the following documents:
  • Main text
  • pone.0050800.pdf
View BVdb publication page