Genomic variant #0001763483

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39322456C>G
Reference Copied from the Exome Variant Server
DB-ID ECH1_000100
Frequency 326/12984
Freq. EA 2/8586
Freq. AA 324/4398
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.-44G>C r.(=) p.(=)