Variant #0000002043 (NC_000013.11:g.32394703_32394706dupGTCT, NM_000059.3:c.9271_9274dupGTCT (BRCA2))

Individual ID 00000431
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32394703_32394706dupGTCT
Published as -
Reference Wei Xiong Wen et al. (2018)
DB-ID BRCA2_000170
dbSNP ID -
Frequency 1/359
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 2021-02-18 15:13:07 +08:00 (CST)
Date last edited 2021-08-01 12:58:02 +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.9271_9274dupGTCT - r.(?) p.(Tyr3092Cysfs*20) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000463 DNA MLPA;SEQ-NG-I BRCA2 14 Nuur Athirah Binti Mohd Daud