Genomic variant #0001890307

Chromosome 21
DNA change (genomic) (Relative to hg19 / GRCh37) g.44448991G>T
Reference Copied from the Exome Variant Server
DB-ID PKNOX1_000078
Frequency 4/13006
Freq. EA 3/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PKNOX1 NM_004571.3 ?/? c.1099+7G>T r.(=) p.(=)