Genomic variant #0001658554

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.13040932A>G
Reference Copied from the Exome Variant Server
DB-ID CEP192_000030
Frequency 1/12996
Freq. EA 0/8590
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.1913A>G r.(?) p.(His638Arg)