Genomic variant #0000038177

Individual ID 00015662
Chromosome 17
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41246489C>T
Reference -
DB-ID BRCA1_000187 See all 4 reported entries
dbSNP ID rs80356935
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.1059G>A r.(?) p.(Trp353*)
BRCA1 NM_007297.3 +/+ - c.918G>A r.(?) p.(Trp306*)
BRCA1 NM_007298.3 +/+ - c.787+272G>A r.(=) p.(=)
BRCA1 NM_007299.3 +/+ - c.787+272G>A r.(=) p.(=)
BRCA1 NM_007300.3 +/+ - c.1059G>A r.(?) p.(Trp353*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005751 DNA SEQ-NG-I 1 - 2 Despoina Kalfakakou