Genomic variant #0000343083

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.5229524C>T
Reference Copied from the Exome Variant Server
DB-ID EDEM1_000013
Frequency 1/12990
Freq. EA 1/8594
Freq. AA 0/4396
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EDEM1 NM_014674.2 ?/? c.34C>T r.(?) p.(Leu12Phe)