Genomic variant #0000043253

Individual ID 00022084
Chromosome 17
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
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 -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00593
Allele Count 35
Allele Number 5900
Owner Stevi Xera
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     
0000007582 DNA SEQ-NG-I 1 - 45 Stevi Xera