Genomic variant #0001931125

Chromosome 22
DNA change (genomic) (Relative to hg19 / GRCh37) g.40161572C>G
Reference Copied from the Exome Variant Server
DB-ID ENTHD1_000032
Frequency 2/12998
Freq. EA 0/8596
Freq. AA 2/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ENTHD1 NM_152512.3 ?/? c.875G>C r.(?) p.(Arg292Thr)