Genomic variant #0000482501

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.57250213del
Reference Copied from the Exome Variant Server
DB-ID AASDH_000176
Frequency 1/12518
Freq. EA 1/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASDH NM_181806.2 ?/? c.230+23del r.(=) p.(=)