Genomic variant #0001658565

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.13048941_13048942insATTG
Reference Copied from the Exome Variant Server
DB-ID CEP192_000041
Frequency 2/12518
Freq. EA 2/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP192 NM_032142.3 ?/? c.2151_2152insATTG r.(?) p.(Ala719Aspfs*11)