Genomic variant #0001136406

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.95546282_95546284del
Reference Copied from the Exome Variant Server
DB-ID CEP57_000028
Frequency 1/12512
Freq. EA 1/8252
Freq. AA 0/4260
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+7_382+9del r.(=) p.(=)