Genomic variant #0001552048

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.7749943G>A
Reference Copied from the Exome Variant Server
DB-ID KDM6B_000046
Frequency 1/13004
Freq. EA 1/8598
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
KDM6B NM_001080424.1 ?/? c.596G>A r.(?) p.(Arg199Gln)