Genomic variant #0000029734

Individual ID 00020964
Chromosome 17
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.59934418C>T
Reference -
DB-ID BRIP1_000061
dbSNP ID rs1437158047
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 0.00017
Allele Count 1
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRIP1 NM_032043.2 +?/+? - c.379+1G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001625 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou