Genomic variant #0000037254

Individual ID 00016544
Chromosome 17
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41197790C>T
Reference [Papamentzelopoulou et al. 2019]
DB-ID BRCA1_000015 See all 55 reported entries
dbSNP ID rs80357268
Variant remarks -
Genetic origin Germline
Segregation ?
Also Known As -
Is Greek Founder Yes
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00404
Allele Count 28
Allele Number 6936
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRCA1 NM_007294.3 +?/+? - c.5497G>A r.(?) p.(Val1833Met)
BRCA1 NM_007297.3 +?/+? - c.5356G>A r.(?) p.(Val1786Met)
BRCA1 NM_007298.3 +?/+? - c.2185G>A r.(?) p.(Val729Met)
BRCA1 NM_007299.3 +?/+? - c.*11G>A r.(=) p.(=)
BRCA1 NM_007300.3 +?/+? - c.5560G>A r.(?) p.(Val1854Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005062 DNA SEQ 0 BRCA1 1 Despoina Kalfakakou