Genomic variant #0001658539

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.13018509T>C
Reference Copied from the Exome Variant Server
DB-ID CEP192_000015
Frequency 28/4566
Freq. EA 1/3182
Freq. AA 27/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP192 NM_032142.3 ?/? c.820T>C r.(?) p.(Phe274Leu)