Genomic variant #0001552023

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.7749407C>T
Reference Copied from the Exome Variant Server
DB-ID KDM6B_000021
Frequency 4/12980
Freq. EA 0/8588
Freq. AA 4/4392
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
KDM6B NM_001080424.1 ?/? c.248C>T r.(?) p.(Pro83Leu)