Genomic variant #0001845454

Chromosome 20
DNA change (genomic) (Relative to hg19 / GRCh37) g.34053684T>A
Reference Copied from the Exome Variant Server
DB-ID CEP250_000017
Frequency 138/13006
Freq. EA 3/8600
Freq. AA 135/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP250 NM_007186.3 ?/? c.326+34T>A r.(=) p.(=)