Genomic variant #0000482449

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.57221594A>G
Reference Copied from the Exome Variant Server
DB-ID AASDH_000124
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASDH NM_181806.2 ?/? c.862-5T>C r.spl? p.?