Genomic variant #0001658562

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.13048810C>T
Reference Copied from the Exome Variant Server
DB-ID CEP192_000038
Frequency 2/13002
Freq. EA 0/8598
Freq. AA 2/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP192 NM_032142.3 ?/? c.2068-48C>T r.(=) p.(=)