Genomic variant #0001931141

Chromosome 22
DNA change (genomic) (Relative to hg19 / GRCh37) g.40257728A>G
Reference Copied from the Exome Variant Server
DB-ID ENTHD1_000048
Frequency 2/12974
Freq. EA 0/8584
Freq. AA 2/4390
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ENTHD1 NM_152512.3 ?/? c.592+42T>C r.(=) p.(=)