Genomic variant #0001763463

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39322045T>C
Reference Copied from the Exome Variant Server
DB-ID ECH1_000080
Frequency 26/13006
Freq. EA 0/8600
Freq. AA 26/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.164A>G r.(?) p.(Tyr55Cys)