Genomic variant #0001763484

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39322458T>A
Reference Copied from the Exome Variant Server
DB-ID ECH1_000101
Frequency 2/12972
Freq. EA 2/8580
Freq. AA 0/4392
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.-46A>T r.(=) p.(=)