Genomic variant #0001931114

Chromosome 22
DNA change (genomic) (Relative to hg19 / GRCh37) g.40140299T>C
Reference Copied from the Exome Variant Server
DB-ID ENTHD1_000021
Frequency 134/13004
Freq. EA 125/8600
Freq. AA 9/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ENTHD1 NM_152512.3 ?/? c.1220-11A>G r.(=) p.(=)