Genomic variant #0001845466

Chromosome 20
DNA change (genomic) (Relative to hg19 / GRCh37) g.34054040C>T
Reference Copied from the Exome Variant Server
DB-ID CEP250_000029
Frequency 1/12996
Freq. EA 1/8596
Freq. AA 0/4400
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP250 NM_007186.3 ?/? c.492+11C>T r.(=) p.(=)