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BRCA1 c.5077_5082delinsTTTATCCTTCAA ;(p.A1693_E1694delinsFILQ)
Variant ID: 17-41215961-CTCAGC-TTGAAGGATAAA
NM_007294.3(
BRCA1
):c.5077_5082delinsTTTATCCTTCAA;(p.A1693_E1694delinsFILQ)
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:
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
European Journal Of Human Genetics : Ejhg
Castéra, Laurent L; Krieger, Sophie S; Rousselin, Antoine A; Legros, Angélina A; Baumann, Jean-Jacques JJ; Bruet, Olivia O; Brault, Baptiste B; Fouillet, Robin R; Goardon, Nicolas N; Letac, Olivier O; Baert-Desurmont, Stéphanie S; Tinat, Julie J; Bera, Odile O; Dugast, Catherine C; Berthet, Pascaline P; Polycarpe, Florence F; Layet, Valérie V; Hardouin, Agnes A; Frébourg, Thierry T; Vaur, Dominique D
Publication Date: 2014-11
Variant appearance in text: BRCA1: Ala1693_Glu1694delinsPheIleLeuGln
PubMed Link:
24549055
Variant Present in the following documents:
Main text
View BVdb publication page