Genomic variant #0001658590

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.13049581_13049582del
Reference Copied from the Exome Variant Server
DB-ID CEP192_000066
Frequency 7/12510
Freq. EA 1/8250
Freq. AA 6/4260
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP192 NM_032142.3 ?/? c.2791_2792del r.(?) p.(Glu932Lysfs*6)