Genomic variant #0000031425

Individual ID 00017790
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.32910636G>C
Reference -
DB-ID BRCA2_000192 See all 2 reported entries
dbSNP ID rs1566226193
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.2144G>C r.(?) p.(Gly715Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001782 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou