Genomic variant #0000038064

Individual ID 00017420
Chromosome 17
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41222949_41222967del
Reference -
DB-ID BRCA1_000019 See all 7 reported entries
dbSNP ID rs80359876
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 0.00059
Allele Count 4
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.4964_4982del r.(?) p.(Ser1655Tyrfs*16)
BRCA1 NM_007297.3 +/+ - c.4823_4841del r.(?) p.(Ser1608Tyrfs*16)
BRCA1 NM_007298.3 +/+ - c.1652_1670del r.(?) p.(Ser551Tyrfs*16)
BRCA1 NM_007299.3 +/+ - c.1652_1670del r.(?) p.(Ser551Tyrfs*16)
BRCA1 NM_007300.3 +/+ - c.5027_5045del r.(?) p.(Ser1676Tyrfs*16)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000003499 DNA SEQ 0 BRCA1 1 Despoina Kalfakakou