Genomic variant #0000017283

Individual ID 00016780
Chromosome 17
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41245875_41245878del
Reference -
DB-ID BRCA1_000053 See all 2 reported entries
dbSNP ID rs1555591390
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.1670_1673del r.(?) p.(Thr557Lysfs*14)
BRCA1 NM_007297.3 +/+ - c.1529_1532del r.(?) p.(Thr510Lysfs*14)
BRCA1 NM_007298.3 +/+ - c.787+883_787+886del r.(=) p.(=)
BRCA1 NM_007299.3 +/+ - c.787+883_787+886del r.(=) p.(=)
BRCA1 NM_007300.3 +/+ - c.1670_1673del r.(?) p.(Thr557Lysfs*14)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000475 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou