Genomic variant #0000482414

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.57216140T>C
Reference Copied from the Exome Variant Server
DB-ID AASDH_000087
Frequency 1/12976
Freq. EA 1/8596
Freq. AA 0/4380
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASDH NM_181806.2 ?/? c.1777A>G r.(?) p.(Ile593Val)