Genomic variant #0001763420

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39307103C>T
Reference Copied from the Exome Variant Server
DB-ID ECH1_000037
Frequency 1069/13006
Freq. EA 955/8600
Freq. AA 114/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.649G>A r.(?) p.(Gly217Arg)