Genomic variant #0001763439

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39308052_39308057del
Reference Copied from the Exome Variant Server
DB-ID ECH1_000057
Frequency 9/12516
Freq. EA 9/8254
Freq. AA 0/4262
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.474+34_474+39del r.(=) p.(=)