Genomic variant #0001763410

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.39306674G>C
Reference Copied from the Exome Variant Server
DB-ID ECH1_000027
Frequency 8/12878
Freq. EA 7/8516
Freq. AA 1/4362
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ECH1 NM_001398.2 ?/? c.732-27C>G r.(=) p.(=)