Genomic variant #0001658583

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.13049338_13049341del
Reference Copied from the Exome Variant Server
DB-ID CEP192_000059
Frequency 1/12518
Freq. EA 0/8254
Freq. AA 1/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP192 NM_032142.3 ?/? c.2548_2551del r.(?) p.(Gly850Argfs*11)