Genomic variant #0000157083

Individual ID 00095490
Chromosome 13
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method ENIGMA
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.32972626A>T
DNA change (hg38) g.32398489A>T
Published as K3326X
ISCN -
DB-ID BRCA2_000481 See all 82 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs11571833
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00646 View details
Owner Angela Solano & F Cardoso
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000095890 DNA SEQ - - BRCA1, BRCA2 18 Angela Solano & F Cardoso