Variant #0000005862 (NC_000017.11:g.43093549_43093552del, BRCA1(NM_007294.3):c.1979_1982del)

Individual ID 00000847
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.43093549_43093552del
Reference -
DB-ID BRCA1_000132
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Claudia Martin-Hospital de Córdoba
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.1979_1982del r.(?) p.(Val660Glyfs*40) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001002 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba - 16-jan-2018 Specific pathology BRCA1, BRCA2 18 Claudia Martin-Hospital de Córdoba