Variant #0000002208 (NC_000013.11:g.32370995A>T, BRCA2(NM_000059.3):c.8527A>T)

Individual ID 00000426
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32370995A>T
Published as -
Reference Wei Xiong Wen et al. (2018)
DB-ID BRCA2_000162
dbSNP ID -
Frequency 1/490
Variant remarks VUS (variants of unknown significance)
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
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.8527A>T - r.(?) p.(Asn2843Tyr) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000455 DNA MLPA;SEQ-NG-I BRCA2 13 Nuur Athirah Binti Mohd Daud