Genomic variant #0001763409

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39306643C>T
Reference Copied from the Exome Variant Server
DB-ID ECH1_000026
Frequency 5/13000
Freq. EA 0/8596
Freq. AA 5/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.736G>A r.(?) p.(Val246Met)