Genomic variant #0001931124

Chromosome 22
DNA change (genomic) (Relative to hg19 / GRCh37) g.40161558C>A
Reference Copied from the Exome Variant Server
DB-ID ENTHD1_000031
Frequency 1/13002
Freq. EA 0/8596
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ENTHD1 NM_152512.3 ?/? c.889G>T r.(?) p.(Asp297Tyr)