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BRCA1 c.4155A>T ;(p.L1385=)
Variant ID: 17-41242991-T-A
NM_007294.3(
BRCA1
):c.4155A>T;(p.L1385=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.
Nature Genetics
Schulze, Kornelius K; Imbeaud, Sandrine S; Letouzé, Eric E; Alexandrov, Ludmil B LB; Calderaro, Julien J; Rebouissou, Sandra S; Couchy, Gabrielle G; Meiller, Clément C; Shinde, Jayendra J; Soysouvanh, Frederic F; Calatayud, Anna-Line AL; Pinyol, Roser R; Pelletier, Laura L; Balabaud, Charles C; Laurent, Alexis A; Blanc, Jean-Frederic JF; Mazzaferro, Vincenzo V; Calvo, Fabien F; Villanueva, Augusto A; Nault, Jean-Charles JC; Bioulac-Sage, Paulette P; Stratton, Michael R MR; Llovet, Josep M JM; Zucman-Rossi, Jessica J
Publication Date: 2015-05
Variant appearance in text: BRCA1: L1385L
PubMed Link:
25822088
Variant Present in the following documents:
NIHMS62359-supplement-Table3.xlsx, sheet 1
View BVdb publication page
Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers.
Bmc Cancer
Miolo, GianMaria G; Canzonieri, Vincenzo V; De Giacomi, Clelia C; Puppa, Lara Della LD; Dolcetti, Riccardo R; Lombardi, Davide D; Perin, Tiziana T; Scalone, Simona S; Veronesi, Andrea A; Viel, Alessandra A
Publication Date: 2009-10-10
Variant appearance in text: BRCA1: L1385L
PubMed Link:
19818148
Variant Present in the following documents:
Main text
1471-2407-9-360.pdf
View BVdb publication page