Genomic variant #0001845465

Chromosome 20
DNA change (genomic) (Relative to hg19 / GRCh37) g.34054019T>C
Reference Copied from the Exome Variant Server
DB-ID CEP250_000028
Frequency 5/13004
Freq. EA 0/8598
Freq. AA 5/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP250 NM_007186.3 ?/? c.482T>C r.(?) p.(Met161Thr)