Variant #0000000587 (NC_000013.11:g.32326300T>C, NC_000013.11(NM_000059.3):c.516+18T>C (BRCA2))

Individual ID 00000103
Chromosome 13
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32326300T>C
Published as -
Reference Kah Nyin Lai et al. (2017), dbSNP, ClinVar
DB-ID BRCA2_000081
dbSNP ID rs81002834
Frequency 8/1207
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-10-28 15:42:22 +08:00 (CST)
Date last edited 2021-08-23 08:53:33 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
BRCA2 NM_000059.3 -/. - c.516+18T>C - r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000118 DNA ? BRCA2 25 Nuur Athirah Binti Mohd Daud