Genomic variant #0000482430

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.57220250_57220253del
Reference Copied from the Exome Variant Server
DB-ID AASDH_000105
Frequency 15/12520
Freq. EA 12/8254
Freq. AA 3/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASDH NM_181806.2 ?/? c.1335_1338del r.(?) p.(Ser445Argfs*37)