Genomic variant #0001763458

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39321899G>A
Reference Copied from the Exome Variant Server
DB-ID ECH1_000075
Frequency 1651/13006
Freq. EA 1148/8600
Freq. AA 503/4406
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+50C>T r.(=) p.(=)