Genomic variant #0001658592

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.13049681_13049684del
Reference Copied from the Exome Variant Server
DB-ID CEP192_000068
Frequency 6/12498
Freq. EA 6/8248
Freq. AA 0/4250
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP192 NM_032142.3 ?/? c.2890+1_2890+4del r.spl? p.?