Genomic variant #0000041075

Individual ID 00016743
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.(41267773_41276097)_(41278204_41282088)del
Reference -
DB-ID BRCA1_000229 See all 3 reported entries
dbSNP ID -
Variant remarks Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is┬árecommended to describe it only using genomic coordinates.
HGVS description is probe-based.
Genetic origin Germline
Segregation -
Also Known As BRCA1 exons 1-2 deletion
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 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 +/+ 1_2 c.(?) r.(?) p.(?)
BRCA1 NM_007297.3 +/+ - c.(?) r.(?) p.(?)
BRCA1 NM_007298.3 +/+ - c.(?) r.(?) p.(?)
BRCA1 NM_007299.3 +/+ - c.(?) r.(?) p.(?)
BRCA1 NM_007300.3 +/+ - c.(?) r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005097 DNA MLPA 0 - 1 Despoina Kalfakakou