Genomic variant #0000343157

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.5251805C>T
Reference Copied from the Exome Variant Server
DB-ID EDEM1_000086
Frequency 23/4566
Freq. EA 23/3182
Freq. AA 0/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EDEM1 NM_014674.2 ?/? c.1510-55C>T r.(=) p.(=)