Genomic variant #0001890246

Chromosome 21
DNA change (genomic) (Relative to hg19 / GRCh37) g.44430116C>T
Reference Copied from the Exome Variant Server
DB-ID PKNOX1_000017
Frequency 5/13002
Freq. EA 2/8598
Freq. AA 3/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PKNOX1 NM_004571.3 ?/? c.180-47C>T r.(=) p.(=)