Genomic variant #0000037418

Individual ID 00017315
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.59821908C>T
Reference -
DB-ID BRIP1_000036 See all 6 reported entries
dbSNP ID rs1567781516
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 Variant not found in online data sets
Allele Count 0
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.2142G>A r.(?) p.(Trp714*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005234 DNA SEQ 0 BRIP1, PALB2 2 Despoina Kalfakakou