Genomic variant #0001658597

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.13049797G>A
Reference Copied from the Exome Variant Server
DB-ID CEP192_000073
Frequency 4/13006
Freq. EA 2/8600
Freq. AA 2/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP192 NM_032142.3 ?/? c.2924G>A r.(?) p.(Arg975His)