Genomic variant #0000036811

Individual ID 00015305
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.(32890665_32893213)_(32893463_32899212)del
Reference -
DB-ID BRCA2_000316 See all 3 reported entries
dbSNP ID -
Variant remarks -
Genetic origin Germline
Segregation ?
Also Known As BRCA2 exon 3 deletion
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 Variant not found in online data sets
Allele Count 0
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 +/+ 3 c.(67+1_68-1)_(316+1_317-1)del r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004633 DNA SEQ 0 ATM, BRCA2 1 Despoina Kalfakakou