Genomic variant #0001763476

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39322335del
Reference Copied from the Exome Variant Server
DB-ID ECH1_000093
Frequency 186/12516
Freq. EA 118/8252
Freq. AA 68/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.52+26del r.(=) p.(=)