Genomic variant #0000036725

Individual ID 00015079
Chromosome 17
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41209094C>T
Reference -
DB-ID BRCA1_000165
dbSNP ID rs80357442
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.5252G>A r.(?) p.(Arg1751Gln)
BRCA1 NM_007297.3 -/- - c.5111G>A r.(?) p.(Arg1704Gln)
BRCA1 NM_007298.3 -/- - c.1940G>A r.(?) p.(Arg647Gln)
BRCA1 NM_007299.3 -/- - c.1940G>A r.(?) p.(Arg647Gln)
BRCA1 NM_007300.3 -/- - c.5315G>A r.(?) p.(Arg1772Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004556 DNA SEQ 1 BRCA1 2 Despoina Kalfakakou