Genomic variant #0001763457

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39321860T>G
Reference Copied from the Exome Variant Server
DB-ID ECH1_000074
Frequency 15/4566
Freq. EA 14/3182
Freq. AA 1/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.261-54A>C r.(=) p.(=)