Genomic variant #0000037157

Individual ID 00016209
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.41243844_41243848del
Reference -
DB-ID BRCA1_000046 See all 16 reported entries
dbSNP ID rs80357609
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 0.00118
Allele Count 8
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.3700_3704del r.(?) p.(Val1234Glnfs*8)
BRCA1 NM_007297.3 +/+ - c.3559_3563del r.(?) p.(Val1187Glnfs*8)
BRCA1 NM_007298.3 +/+ - c.788-799_788-795del r.(=) p.(=)
BRCA1 NM_007299.3 +/+ - c.788-799_788-795del r.(=) p.(=)
BRCA1 NM_007300.3 +/+ - c.3700_3704del r.(?) p.(Val1234Glnfs*8)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004968 DNA SEQ 0 BRCA1 1 Despoina Kalfakakou