Genomic variant #0001083059

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.46839822_46839823del
Reference Copied from the Exome Variant Server
DB-ID CKAP5_000248
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     
CKAP5 NM_014756.3 ?/? c.251+38_251+39del r.(=) p.(=)