Genomic variant #0000037357

Individual ID 00017011
Chromosome 17
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41205431_41209604del
Reference -
DB-ID BRCA1_000197 See all 3 reported entries
dbSNP ID -
Variant remarks -
Genetic origin Germline
Segregation ?
Also Known As BRCA1 Exon 20 deletion
Is Greek Founder Yes
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population Variant not found in online data sets
Allele Count 0
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.5194-452_5277+3638del r.(?) p.(His1732_Lys1759del)
BRCA1 NM_007297.3 +/+ - c.5053-452_5137-2297del r.(?) p.(His1685_Lys1712del)
BRCA1 NM_007298.3 +/+ - c.1882-452_1966-2297del r.(?) p.(His628_Lys655del)
BRCA1 NM_007299.3 +/+ - c.1882-452_1966-2297del r.(?) p.(His628_Lys655del)
BRCA1 NM_007300.3 +/+ - c.5257-452_5341-2297del r.(?) p.(His1753_Lys1780del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005173 DNA SEQ 0 BRCA1 1 Despoina Kalfakakou