Variant #0000002350 (NC_000017.11:g.43093844G>A, BRCA1(NM_007294.3):c.1687C>T)

Individual ID 00000262
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.43093844G>A
Reference -
DB-ID BRCA1_000029 See all 5 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Private Practice
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.1687C>T r.(?) p.(Gln563*) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000309 DNA SEQ Domeq&Lafage Known familial mutation 30-aug-2017 - BRCA1 1 Lina Nuñez-Private Practice