Genomic variant #0000343095

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.5229915_5229917del
Reference Copied from the Exome Variant Server
DB-ID EDEM1_000010
Frequency 6/12472
Freq. EA 4/8234
Freq. AA 2/4238
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EDEM1 NM_014674.2 ?/? c.425_427del r.(?) p.(Asp143del)