Genomic variant #0000051523

Individual ID 00028325
Chromosome 13
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.32972626A>T
DNA change (hg38) g.32398489A>T
Published as -
ISCN -
DB-ID BRCA2_000481 See all 81 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00646 View details
Owner Xavier P. Pepermans
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

ClassClinical     

Haplotype     
BRCA2 NM_000059.3 -/- 27 c.9976A>T r.(?) p.(Lys3326*) benign -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000028336 DNA MLPA;SEQ - - BRCA1, BRCA2 1 Xavier P. Pepermans