Genomic variant #0001763432

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39307925C>T
Reference Copied from the Exome Variant Server
DB-ID ECH1_000049
Frequency 2413/12768
Freq. EA 1557/8464
Freq. AA 856/4304
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+31G>A r.(=) p.(=)