Genomic variant #0001931133

Chromosome 22
DNA change (genomic) (Relative to hg19 / GRCh37) g.40217114A>G
Reference Copied from the Exome Variant Server
DB-ID ENTHD1_000040
Frequency 30/13006
Freq. EA 0/8600
Freq. AA 30/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ENTHD1 NM_152512.3 ?/? c.716T>C r.(?) p.(Leu239Pro)