Genomic variant #0001658532

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.13008577C>G
Reference Copied from the Exome Variant Server
DB-ID CEP192_000008
Frequency 6/4566
Freq. EA 0/3182
Freq. AA 6/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP192 NM_032142.3 ?/? c.413C>G r.(?) p.(Ser138Cys)