Genomic variant #0000028406

Individual ID 00020828
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.52443571C>T
Reference -
DB-ID BAP1_000052 See all 2 reported entries
dbSNP ID rs372586694
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 0.00052
Allele Count 3
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BAP1 NM_004656.3 -?/-? - c.121G>A r.(?) p.(Gly41Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001507 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou