Genomic variant #0001552083

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.7750482C>T
Reference Copied from the Exome Variant Server
DB-ID KDM6B_000081
Frequency 1/12940
Freq. EA 0/8554
Freq. AA 1/4386
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
KDM6B NM_001080424.1 ?/? c.969C>T r.(=) p.(=)