Bibliome.ai browser hg19
Search
About
Stats
FAQ
BRCA1 c.4296_4354del ;(p.I1433Sfs*9)
Variant ID: 17-41234424-TTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATG-T
NM_007294.3(
BRCA1
):c.4296_4354del;(p.I1433Sfs*9)
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:
BRCA1 Alternative splicing landscape in breast tissue samples.
Bmc Cancer
Romero, Atocha A; García-García, Francisco F; López-Perolio, Irene I; Ruiz de Garibay, Gorka G; García-Sáenz, José A JA; Garre, Pilar P; Ayllón, Patricia P; Benito, Esperanza E; Dopazo, Joaquín J; Díaz-Rubio, Eduardo E; Caldés, Trinidad T; de la Hoya, Miguel M
Publication Date: 2015-04-03
Variant appearance in text: BRCA1: 4186_4357del
PubMed Link:
25884417
Variant Present in the following documents:
Main text
12885_2015_Article_1145.pdf
View BVdb publication page