BRCA1 c.1656del ;(p.H553Mfs*19)

Variant ID: 17-41245892-GA-G

NM_007294.3(BRCA1):c.1656del;(p.H553Mfs*19)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.

International Journal Of Molecular Sciences
Palmirotta, Raffaele R; Lovero, Domenica D; Stucci, Luigia Stefania LS; Silvestris, Erica E; Quaresmini, Davide D; Cardascia, Angela A; Silvestris, Franco F
Publication Date: 2018-01-18

Variant appearance in text: BRCA1: 1656_1656delT
PubMed Link: 29346284
Variant Present in the following documents:
  • Main text
  • ijms-19-00285.pdf
View BVdb publication page