Genomic variant #0000009507

Individual ID 00021173
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.41258504A>C
Reference [Konstantopoulou et al. 2013]
DB-ID BRCA1_000014 See all 40 reported entries
dbSNP ID rs28897672
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As C61G
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 0.00317
Allele Count 22
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.181T>G r.(?) p.(Cys61Gly)
BRCA1 NM_007297.3 +/+ - c.40T>G r.(?) p.(Cys14Gly)
BRCA1 NM_007298.3 +/+ - c.181T>G r.(?) p.(Cys61Gly)
BRCA1 NM_007299.3 +/+ - c.181T>G r.(?) p.(Cys61Gly)
BRCA1 NM_007300.3 +/+ - c.181T>G r.(?) p.(Cys61Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000253 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou