Genomic variant #0001931111

Chromosome 22
DNA change (genomic) (Relative to hg19 / GRCh37) g.40140166T>C
Reference Copied from the Exome Variant Server
DB-ID ENTHD1_000018
Frequency 10/13006
Freq. EA 0/8600
Freq. AA 10/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ENTHD1 NM_152512.3 ?/? c.1342A>G r.(?) p.(Thr448Ala)