Variant #0000005430 (NC_000013.11:g.32355095A>G, BRCA2(NM_000059.3):c.7242A>G)

Individual ID 00000727
Chromosome 13
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.32355095A>G
Reference -
DB-ID BRCA2_000026 See all 194 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Norma Rossi-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     
BRCA2 NM_000059.3 -/- 14 c.7242A>G r.(=) p.(=) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000847 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba - 11-oct-2018 Specific pathology panel BRCA1, BRCA2 16 Norma Rossi-Hospital de Córdoba