Genomic variant #0000006423

Individual ID 00021123
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.32906593C>A
Reference -
DB-ID BRCA2_000041 See all 8 reported entries
dbSNP ID rs28897706
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 0.00121
Allele Count 8
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.978C>A r.(?) p.(Ser326Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000176 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou