Genomic variant #0001136409

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.95546315_95546317del
Reference Copied from the Exome Variant Server
DB-ID CEP57_000034
Frequency 10/12416
Freq. EA 1/8208
Freq. AA 9/4208
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CEP57 NM_014679.4 ?/? c.382+40_382+42del r.(=) p.(=)