Genomic variant #0000842942

Chromosome 8
DNA change (genomic) (Relative to hg19 / GRCh37) g.67364224_67364233del
Reference Copied from the Exome Variant Server
DB-ID ADHFE1_000065
Frequency 1/12518
Freq. EA 1/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ADHFE1 NM_144650.2 ?/? c.771_780del r.(?) p.(Leu258Profs*34)