Genomic variant #0001552020

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.7749347C>T
Reference Copied from the Exome Variant Server
DB-ID KDM6B_000018
Frequency 1/12994
Freq. EA 0/8592
Freq. AA 1/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
KDM6B NM_001080424.1 ?/? c.237-49C>T r.(=) p.(=)