Genomic variant #0000523455

Chromosome 4
DNA change (genomic) (Relative to hg19 / GRCh37) g.170990375C>T
Reference Copied from the Exome Variant Server
DB-ID AADAT_000055
Frequency 80/13006
Freq. EA 72/8600
Freq. AA 8/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AADAT NM_016228.3 ?/? c.727G>A r.(?) p.(Val243Ile)