Genomic variant #0001658598

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.13049812_13049815del
Reference Copied from the Exome Variant Server
DB-ID CEP192_000074
Frequency 42/12518
Freq. EA 1/8254
Freq. AA 41/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP192 NM_032142.3 ?/? c.2939_2942del r.(?) p.(Glu980Glyfs*11)