Genomic variant #0000031292

Individual ID 00021585
Chromosome 17
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.59924512C>T
Reference -
DB-ID BRIP1_000004 See all 35 reported entries
dbSNP ID rs4988346
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 0.00593
Allele Count 35
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRIP1 NM_032043.2 ?/? - c.577G>A r.(?) p.(Val193Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001768 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou