Genomic variant #0000343086

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.5229557C>T
Reference Copied from the Exome Variant Server
DB-ID EDEM1_000019
Frequency 1/12998
Freq. EA 0/8596
Freq. AA 1/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EDEM1 NM_014674.2 ?/? c.67C>T r.(?) p.(Leu23Phe)