Genomic variant #0001763427

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39307650C>T
Reference Copied from the Exome Variant Server
DB-ID ECH1_000044
Frequency 21/4566
Freq. EA 19/3182
Freq. AA 2/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.588+55G>A r.(=) p.(=)