Genomic variant #0000343098

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.5229985C>T
Reference Copied from the Exome Variant Server
DB-ID EDEM1_000016
Frequency 1/12492
Freq. EA 0/8348
Freq. AA 1/4144
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EDEM1 NM_014674.2 ?/? c.495C>T r.(=) p.(=)