Genomic variant #0000482426

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.57219741C>T
Reference Copied from the Exome Variant Server
DB-ID AASDH_000101
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASDH NM_181806.2 ?/? c.1405G>A r.(?) p.(Val469Met)