Genomic variant #0000022372

Individual ID 00017251
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.32972332del
Reference -
DB-ID BRCA2_000138 See all 3 reported entries
dbSNP ID rs398122618
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.9682del r.(?) p.(Ser3228Valfs*21)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000909 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou