Genomic variant #0001763480

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39322405G>A
Reference Copied from the Exome Variant Server
DB-ID ECH1_000097
Frequency 1/12988
Freq. EA 1/8588
Freq. AA 0/4400
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.8C>T r.(?) p.(Ala3Val)