Genomic variant #0000040433

Individual ID 00021147
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.41215969C>T
Reference -
DB-ID BRCA1_000028 See all 3 reported entries
dbSNP ID rs1800747
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 0.00044
Allele Count 3
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.5075-1G>A r.spl? p.?
BRCA1 NM_007297.3 +/+ - c.4934-1G>A r.spl? p.?
BRCA1 NM_007298.3 +/+ - c.1763-1G>A r.spl? p.?
BRCA1 NM_007299.3 +/+ - c.1763-1G>A r.spl? p.?
BRCA1 NM_007300.3 +/+ - c.5138-1G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007232 DNA SEQ 1 BRCA1 1 Despoina Kalfakakou