Genomic variant #0000027349

Individual ID 00020764
Chromosome 3
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.52442564T>A
Reference -
DB-ID BAP1_000051
dbSNP ID rs1060503744
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 0.00017
Allele Count 1
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.181A>T r.(?) p.(Lys61*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001415 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou