Genomic variant #0000498598

Individual ID 00245096
Chromosome 13
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
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 -
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




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     
0000246208 DNA SEQ - - BRCA1, BRCA2 2 Angela Solano & F Cardoso