Genomic variant #0001763460

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39321919A>T
Reference Copied from the Exome Variant Server
DB-ID ECH1_000077
Frequency 130/13006
Freq. EA 0/8600
Freq. AA 130/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.260+30T>A r.(=) p.(=)