Genomic variant #0000030047

Individual ID 00020130
Chromosome 13
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.32930673C>T
Reference -
DB-ID BRCA2_000059 See all 14 reported entries
dbSNP ID rs28897744
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 0.00212
Allele Count 14
Allele Number 6618
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRCA2 NM_000059.3 -/- - c.7544C>T r.(?) p.(Thr2515Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001654 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou