Genomic variant #0001763454

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39321762_39321765del
Reference Copied from the Exome Variant Server
DB-ID ECH1_000071
Frequency 1/12518
Freq. EA 1/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.302_305del r.(?) p.(Asp101Valfs*5)