Genomic variant #0001763429

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39307772A>G
Reference Copied from the Exome Variant Server
DB-ID ECH1_000046
Frequency 1/12966
Freq. EA 0/8572
Freq. AA 1/4394
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.524-3T>C r.spl? p.?