Genomic variant #0001845522

Chromosome 20
DNA change (genomic) (Relative to hg19 / GRCh37) g.34061918T>C
Reference Copied from the Exome Variant Server
DB-ID CEP250_000085
Frequency 489/12512
Freq. EA 442/8284
Freq. AA 47/4228
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP250 NM_007186.3 ?/? c.1571+41T>C r.(=) p.(=)