Variant #0000005809 (NC_000013.11:g.32398747A>G, NM_000059.3:c.10234A>G (BRCA2))

Individual ID 00000838
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.32398747A>G
Reference -
DB-ID BRCA2_000077 See all 23 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
Date created 2019-05-21 15:34:54 -03:00 (-03)
Date last edited N/A
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
RNA change     
Protein     
Zygosity     
Co_ocurrence     
Review status     
BRCA2 NM_000059.3 -/- 27 c.10234A>G r.(?) p.(Ile3412Val) Hetero no -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000000991 DNA SEQ-NG CEMIC - 21-mar-2019 Multigenetic panel ATM, BRCA1, BRCA2, CHEK2, NBN, PALB2, PTEN, STK11, TP53 18 Lina Nuñez-Private Practice

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