Genomic variant #0001763436

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39307993G>A
Reference Copied from the Exome Variant Server
DB-ID ECH1_000053
Frequency 1/13000
Freq. EA 0/8598
Freq. AA 1/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.486C>T r.(=) p.(=)