Genomic variant #0001763433

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39307945C>T
Reference Copied from the Exome Variant Server
DB-ID ECH1_000050
Frequency 1/12914
Freq. EA 1/8548
Freq. AA 0/4366
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.523+11G>A r.(=) p.(=)