Genomic variant #0001763474

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39322323C>T
Reference Copied from the Exome Variant Server
DB-ID ECH1_000091
Frequency 1/12996
Freq. EA 1/8594
Freq. AA 0/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.52+38G>A r.(=) p.(=)