Genomic variant #0001845470

Chromosome 20
DNA change (genomic) (Relative to hg19 / GRCh37) g.34054824C>T
Reference Copied from the Exome Variant Server
DB-ID CEP250_000033
Frequency 4/13006
Freq. EA 2/8600
Freq. AA 2/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP250 NM_007186.3 ?/? c.526C>T r.(?) p.(Arg176Cys)