Genomic variant #0001658591

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.13049619A>G
Reference Copied from the Exome Variant Server
DB-ID CEP192_000067
Frequency 1/12964
Freq. EA 0/8588
Freq. AA 1/4376
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP192 NM_032142.3 ?/? c.2829A>G r.(?) p.(Ile943Met)