Genomic variant #0001763481

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39322414G>T
Reference Copied from the Exome Variant Server
DB-ID ECH1_000099
Frequency 503/13004
Freq. EA 452/8600
Freq. AA 51/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

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