Genomic variant #0000031201

Individual ID 00011643
Chromosome 13
Allele Unknown
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 78 reported entries
Variant remarks -
Reference Dutch/Belgium working group Breast Cancer DNA Diagnostics
ClinVar ID -
dbSNP ID rs11571833
Origin Germline
Segregation no
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00646 View details
Owner Maaike Vreeswijk




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.(Lys3326X) benign -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000011558 DNA SEQ ? - BRCA1, BRCA2 1 Maaike Vreeswijk