Genomic variant #0000036857

Individual ID 00015379
Chromosome 13
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.32912907_32912910del
Reference -
DB-ID BRCA2_000245 See all 11 reported entries
dbSNP ID rs397507333
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 0.00108
Allele Count 7
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.4415_4418del r.(?) p.(Lys1472Thrfs*6)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004679 DNA SEQ 1 BRCA1, BRCA2 1 Despoina Kalfakakou