Genomic variant #0000482500

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.57248812T>C
Reference Copied from the Exome Variant Server
DB-ID AASDH_000175
Frequency 1/12958
Freq. EA 1/8590
Freq. AA 0/4368
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASDH NM_181806.2 ?/? c.231-49A>G r.(=) p.(=)