Genomic variant #0000040883

Individual ID 00021452
Chromosome 13
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.32900656dup
Reference -
DB-ID BRCA2_000312 See all 8 reported entries
dbSNP ID rs1566219199
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00031
Allele Count 2
Allele Number 6460
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRCA2 NM_000059.3 +/+ - c.537dup r.(?) p.(Ile180Tyrfs*3)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007384 DNA SEQ 0 BRCA2 1 Despoina Kalfakakou