Genomic variant #0000020637

Individual ID 00016972
Chromosome 13
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.32930610G>A
Reference -
DB-ID BRCA2_000120 See all 2 reported entries
dbSNP ID rs80358973
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 0.00015
Allele Count 1
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.7481G>A r.(?) p.(Arg2494Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000747 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou