Genomic variant #0001763451

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39321691G>C
Reference Copied from the Exome Variant Server
DB-ID ECH1_000068
Frequency 360/13006
Freq. EA 2/8600
Freq. AA 358/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.349+27C>G r.(=) p.(=)