Genomic variant #0001763450

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39308213T>C
Reference Copied from the Exome Variant Server
DB-ID ECH1_000067
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.352A>G r.(?) p.(Ile118Val)