Genomic variant #0001763431

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39307895G>A
Reference Copied from the Exome Variant Server
DB-ID ECH1_000048
Frequency 1/4566
Freq. EA 1/3182
Freq. AA 0/1384
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+61C>T r.(=) p.(=)