BRCA1 c.5397_5398del ;(p.L1800Wfs*29)

Variant ID: 17-41201145-AGG-A

NM_007294.3(BRCA1):c.5397_5398del;(p.L1800Wfs*29)

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:

Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation.

Genes
Vietri, Maria Teresa MT; D'Elia, Giovanna G; Caliendo, Gemma G; Albanese, Luisa L; Signoriello, Giuseppe G; Napoli, Claudio C; Molinari, Anna Maria AM
Publication Date: 2022-02-09

Variant appearance in text: BRCA1: 5397_5398del; Leu1800Trpfs*29
PubMed Link: 35205366
Variant Present in the following documents:
  • genes-13-00321.pdf
View BVdb publication page