Variant #0000000606 (NC_000013.11:g.32379757_32379760del, NM_000059.3:c.8961_8964del (BRCA2))

Individual ID 00000105
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32379757_32379760del
Published as -
Reference Xiaohong R Yang et al. (2017), dbSNP, ClinVar
DB-ID BRCA2_000066
dbSNP ID rs80359734
Frequency 4/15
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 2020-11-01 11:07:47 +08:00 (CST)
Date last edited 2021-08-22 10:36:48 +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.8961_8964del - r.(?) p.(Ser2988Phefs*12) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000120 DNA MLPA;SEQ BRCA2 9 Nuur Athirah Binti Mohd Daud