Genomic variant #0000857102

Chromosome 8
DNA change (genomic) (Relative to hg19 / GRCh37) g.109247263_109247266del
Reference Copied from the Exome Variant Server
DB-ID EIF3E_000045
Frequency 1/12506
Freq. EA 1/8242
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EIF3E NM_001568.2 ?/? c.432_435del r.(?) p.(Tyr144*)