Genomic variant #0001658529

Chromosome 18
DNA change (genomic) (Relative to hg19 / GRCh37) g.13001577G>A
Reference Copied from the Exome Variant Server
DB-ID CEP192_000005
Frequency 1/4566
Freq. EA 1/3182
Freq. AA 0/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP192 NM_032142.3 ?/? c.286G>A r.(?) p.(Asp96Asn)