Genomic variant #0000040487

Individual ID 00021318
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.41199660C>T
Reference [Konstantopoulou et al. 2013], [Armaou et al 2009]
DB-ID BRCA1_000056 See all 27 reported entries
dbSNP ID rs80357212
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 0.00118
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.5467G>A r.(?) p.(Ala1823Thr)
BRCA1 NM_007297.3 +/+ - c.5326G>A r.(?) p.(Ala1776Thr)
BRCA1 NM_007298.3 +/+ - c.2155G>A r.(?) p.(Ala719Thr)
BRCA1 NM_007299.3 +/+ - c.2081G>A r.(?) p.(Cys694Tyr)
BRCA1 NM_007300.3 +/+ - c.5530G>A r.(?) p.(Ala1844Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007328 DNA SEQ 0 BRCA1 1 Despoina Kalfakakou