Variant #0000004737 (NC_000017.11:g.43093449G>A, BRCA1(NM_007294.3):c.2082C>T)

Individual ID 00000599
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 Lina Nuñez-Hospital Alemán
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     

Protein     

Zygosity     

Co_ocurrence     

Review status     
BRCA1 NM_007294.3 -/- 11 c.2082C>T r.(=) p.(=) Hetero BRCA1 -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000689 DNA SEQ-NG Stamboulian - 25-apr-2018 Specific pathology panel BRCA1, BRCA2 19 Lina Nuñez-Hospital Alemán