Genomic variant #0001584633

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.37790273_37790275del
Reference Copied from the Exome Variant Server
DB-ID PPP1R1B_000029
Frequency 1/12518
Freq. EA 0/8254
Freq. AA 1/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PPP1R1B NM_032192.3 ?/? c.379_381del r.(?) p.(Asp128del)