Genomic variant #0000037133

Individual ID 00016113
Chromosome 13
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.32912046_32912055del
Reference -
DB-ID BRCA2_000158 See all 7 reported entries
dbSNP ID rs397507675
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 0.00046
Allele Count 3
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.3554_3563del r.(?) p.(Thr1185Ilefs*9)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004942 DNA SEQ 1 BRCA2 1 Despoina Kalfakakou