Genomic variant #0001845500

Chromosome 20
DNA change (genomic) (Relative to hg19 / GRCh37) g.34060561G>C
Reference Copied from the Exome Variant Server
DB-ID CEP250_000063
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP250 NM_007186.3 ?/? c.1114G>C r.(?) p.(Asp372His)