Genomic variant #0000343147

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.5248878_5248879del
Reference Copied from the Exome Variant Server
DB-ID EDEM1_000066
Frequency 2/12520
Freq. EA 2/8254
Freq. AA 0/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EDEM1 NM_014674.2 ?/? c.1258_1259del r.(?) p.(Tyr420Cysfs*16)