Genomic variant #0001552022

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.7749398C>T
Reference Copied from the Exome Variant Server
DB-ID KDM6B_000020
Frequency 2/12896
Freq. EA 2/8544
Freq. AA 0/4352
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
KDM6B NM_001080424.1 ?/? c.239C>T r.(?) p.(Ala80Val)