Variant #0000004954 (NC_000017.11:g.43092412C>T, BRCA1(NM_007294.3):c.3119G>A)

Individual ID 00000618
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.43092412C>T
Reference -
DB-ID BRCA1_000019 See all 27 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Florencia Petracchi-CEMIC
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.3119G>A r.(?) p.(Ser1040Asn) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000715 DNA SEQ-NG CEMIC - 24-nov-2017 Specific pathology panel BRCA1, BRCA2 8 Florencia Petracchi-CEMIC