Genomic variant #0001845440

Chromosome 20
DNA change (genomic) (Relative to hg19 / GRCh37) g.34050404G>C
Reference Copied from the Exome Variant Server
DB-ID CEP250_000003
Frequency 5/12982
Freq. EA 0/8590
Freq. AA 5/4392
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP250 NM_007186.3 ?/? c.186+26G>C r.(=) p.(=)