Variant #0000007164 (NC_000017.11:g.43093449G>A, BRCA1(NM_007294.3):c.2082C>T)

Individual ID 00001278
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.43093449G>A
Reference -
DB-ID BRCA1_000002 See all 287 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
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     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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Co_ocurrence     

Review status     
BRCA1 NM_007294.3 -/- 11 c.2082C>T r.(=) p.(=) Homo no -



Screenings


AscendingScreening ID     

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Date of test     

Type of test     

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Variants found     

Owner     
0000001517 DNA SEQ-NG IACA CNV analysis of BRCA1, BRCA2, PALB2, RAD51D, RAD51C and TP53 26-sep-2018 Multigenetic panel ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FANCC, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 24 Silvina Sisterna-Hospital de Comunidad