Variant #0000001444 (NC_000017.11:g.43093857delT, BRCA1(NM_007294.3):c.1674delA)

Individual ID 00000184
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.43093857delT
Reference -
DB-ID BRCA1_000053 See all 2 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Alejandra Mampel-Hospital Universitario de Mendoza
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

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DNA change (cDNA)     

RNA change     

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Review status     
BRCA1 NM_007294.3 +/+ 11 c.1674delA r.(?) p.(Gly559Valfs*13) Hetero N/A -



Screenings


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Variants found     

Owner     
0000000209 DNA SEQ-NG;z-score-CNV Héritas Panel Héritas (12 genes) 23-may-2017 - ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 21 Alejandra Mampel-Hospital Universitario de Mendoza