Genomic variant #0000482439

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.57221357_57221361del
Reference Copied from the Exome Variant Server
DB-ID AASDH_000114
Frequency 1/12520
Freq. EA 1/8254
Freq. AA 0/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASDH NM_181806.2 ?/? c.1090_1094del r.(?) p.(Asn364Tyrfs*5)