Genomic variant #0001845491

Chromosome 20
DNA change (genomic) (Relative to hg19 / GRCh37) g.34059856_34059857del
Reference Copied from the Exome Variant Server
DB-ID CEP250_000054
Frequency 27/12518
Freq. EA 17/8254
Freq. AA 10/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP250 NM_007186.3 ?/? c.949-19_949-18del r.(=) p.(=)