Genomic variant #0001763430

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39307893G>C
Reference Copied from the Exome Variant Server
DB-ID ECH1_000047
Frequency 685/4566
Freq. EA 430/3182
Freq. AA 255/1384
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+63C>G r.(=) p.(=)