Genomic variant #0001658569

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.13049066A>G
Reference Copied from the Exome Variant Server
DB-ID CEP192_000045
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP192 NM_032142.3 ?/? c.2276A>G r.(?) p.(Tyr759Cys)