Genomic variant #0000040105

Individual ID 00021989
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.59924572G>A
Reference -
DB-ID BRIP1_000005 See all 10 reported entries
dbSNP ID rs4988345
Variant remarks -
Genetic origin -
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 0.00156
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRIP1 NM_032043.2 ./. - c.517C>T r.(?) p.(Arg173Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007002 DNA SEQ-NG - - 13 Despoina Kalfakakou