Genomic variant #0000040456

Individual ID 00021232
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.41245722_41245725del
Reference -
DB-ID BRCA1_000210 See all 3 reported entries
dbSNP ID rs80357952
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 0.00015
Allele Count 1
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.1823_1826del r.(?) p.(Lys608Ilefs*3)
BRCA1 NM_007297.3 +/+ - c.1682_1685del r.(?) p.(Lys561Ilefs*3)
BRCA1 NM_007298.3 +/+ - c.787+1036_787+1039del r.(=) p.(=)
BRCA1 NM_007299.3 +/+ - c.787+1036_787+1039del r.(=) p.(=)
BRCA1 NM_007300.3 +/+ - c.1823_1826del r.(?) p.(Lys608Ilefs*3)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007274 DNA SEQ 0 BRCA1 1 Despoina Kalfakakou