Variant #0000001987 (NC_000013.11:g.32340868G>C, NM_000059.3:c.6513G>C (BRCA2))

Individual ID 00000225
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.32340868G>C
Reference -
DB-ID BRCA2_000036 See all 168 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Hospital Alemán
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Date created 2017-07-31 12:45:21 -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 -/- 11 c.6513G>C r.(=) p.(=) Homo no -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000000259 DNA SEQ-NG;z-score-CNV Héritas Panel Héritas (9 genes) 12-jan-2017 - ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, STK11, TP53 18 Lina Nuñez-Hospital Alemán

  Powered by LOVD v.3.0 Build 30
LOVD software ©2004-2024 Leiden University Medical Center 		There are currently no updates.