Genomic variant #0000036742

Individual ID 00015125
Chromosome 17
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41189422_41200474del
Reference [Apostolou et al. 2017],[Konstantopoulou et al. 2013], [Armaou et al 2009]
DB-ID BRCA1_000090 See all 89 reported entries
dbSNP ID -
Variant remarks -
Genetic origin Germline
Segregation yes
Also Known As BRCA1 exons 23-24 deletion
Is Greek Founder Yes
Geographic Origin (for founder variants) Minor Asia and Aegean Islands
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00251
Allele Count 17
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.5407-754_*8273del r.0? p.0?
BRCA1 NM_007297.3 +/+ - c.5265+664_*8273del r.? p.?
BRCA1 NM_007298.3 +/+ - c.2094+664_*8273del r.? p.?
BRCA1 NM_007299.3 +/+ - c.2021-754_*8379del r.0? p.0?
BRCA1 NM_007300.3 +/+ - c.5469+664_*8273del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004572 DNA SEQ 0 BRCA1 1 Despoina Kalfakakou