Genomic variant #0001763395

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39306479_39306480insCGGAG
Reference Copied from the Exome Variant Server
DB-ID ECH1_000012
Frequency 2/12518
Freq. EA 0/8254
Freq. AA 2/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.882+17_882+18insCTCCG r.(=) p.(=)