Genomic variant #0000842888

Chromosome 8
DNA change (genomic) (Relative to hg19 / GRCh37) g.67344767C>T
Reference Copied from the Exome Variant Server
DB-ID ADHFE1_000007
Frequency 2/10762
Freq. EA 2/7508
Freq. AA 0/3254
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ADHFE1 NM_144650.2 ?/? c.16C>T r.(?) p.(Arg6*)