Variant #0000006512 (NC_000017.11:g.43093454C>T, NM_007294.3:c.2077G>A (BRCA1))

Individual ID 00001024
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.43093454C>T
Reference -
DB-ID BRCA1_000016 See all 68 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
Date created 2020-01-29 11:51:14 -02:00 (-02)
Date last edited N/A
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
RNA change     
Protein     
Zygosity     
Co_ocurrence     
Review status     
BRCA1 NM_007294.3 -/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero BRCA2 -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000001229 DNA CNV;SEQ-NG IACA CNV in genes BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53 26-sep-2018 Multigenetic panel ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FANCC, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 27 Silvina Sisterna-Hospital de Comunidad

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