Genomic variant #0000037361

Individual ID 00017040
Chromosome 17
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41209080dupG
Reference [Konstantopoulou et al. 2007], [Konstantopoulou et al. 2013], [Armaou et al 2009]
DB-ID BRCA1_000050 See all 149 reported entries
dbSNP ID rs80357906
Variant remarks -
Genetic origin Germline
Segregation ?
Also Known As -
Is Greek Founder Yes
Geographic Origin (for founder variants) Thrace, Macedonia, Thessalia
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00694
Allele Count 47
Allele Number 6768
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRCA1 NM_007294.3 +/+ - c.5266dupC r.(?) p.(Gln1756Profs*74)
BRCA1 NM_007297.3 +/+ - c.5125dupC r.(?) p.(Gln1709Profs*74)
BRCA1 NM_007298.3 +/+ - c.1954dupC r.(?) p.(Gln652Profs*74)
BRCA1 NM_007299.3 +/+ - c.1954dupC r.(?) p.(Gln652Profs*54)
BRCA1 NM_007300.3 +/+ - c.5329dupC r.(?) p.(Gln1777Profs*74)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005177 DNA SEQ 0 BRCA1 1 Despoina Kalfakakou