BRCA1 c.4036_4094del ;(p.E1346Rfs*2)

Variant ID: 17-41243454-TAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTTTC-T

NM_007294.3(BRCA1):c.4036_4094del;(p.E1346Rfs*2)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier.

Clinical Case Reports
Byrjalsen, Anna A; Steffensen, Ane Y AY; Hansen, Thomas V O TVO; Wadt, Karin K; Gerdes, Anne-Marie AM
Publication Date: 2017-06

Variant appearance in text: BRCA1: 671_4096del
PubMed Link: 28588830
Variant Present in the following documents:
  • Main text
  • CCR3-5-876.pdf
View BVdb publication page