Genomic variant #0000030832

Individual ID 00021551
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.32913947C>T
Reference -
DB-ID BRCA2_000128 See all 5 reported entries
dbSNP ID rs80358768
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 0.00076
Allele Count 5
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.5455C>T r.(?) p.(Pro1819Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001730 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou