Genomic variant #0001763485

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39322465_39322466insG
Reference Copied from the Exome Variant Server
DB-ID ECH1_000102
Frequency 5/12378
Freq. EA 2/8174
Freq. AA 3/4204
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.-54_-53insC r.(=) p.(=)