Genomic variant #0001931118

Chromosome 22
DNA change (genomic) (Relative to hg19 / GRCh37) g.40161342_40161343del
Reference Copied from the Exome Variant Server
DB-ID ENTHD1_000025
Frequency 69/12514
Freq. EA 62/8250
Freq. AA 7/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ENTHD1 NM_152512.3 ?/? c.1104_1105del r.(?) p.(Pro369Leufs*6)