Genomic variant #0001658544

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.13030617T>C
Reference Copied from the Exome Variant Server
DB-ID CEP192_000020
Frequency 492/13000
Freq. EA 6/8594
Freq. AA 486/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP192 NM_032142.3 ?/? c.1534+10T>C r.(=) p.(=)