Genomic variant #0001083029

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.46829546del
Reference Copied from the Exome Variant Server
DB-ID CKAP5_000212
Frequency 1/12518
Freq. EA 0/8254
Freq. AA 1/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CKAP5 NM_014756.3 ?/? c.978+35del r.(=) p.(=)