Genomic variant #0000343124

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.5244744C>T
Reference Copied from the Exome Variant Server
DB-ID EDEM1_000045
Frequency 2/13006
Freq. EA 1/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EDEM1 NM_014674.2 ?/? c.952C>T r.(?) p.(Arg318*)