Genomic variant #0001658553

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.13040914T>C
Reference Copied from the Exome Variant Server
DB-ID CEP192_000029
Frequency 1/13000
Freq. EA 0/8594
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.1895T>C r.(?) p.(Leu632Ser)