Genomic variant #0001290014

Chromosome 13
DNA change (genomic) (Relative to hg19 / GRCh37) g.79175771G>T
Reference Copied from the Exome Variant Server
DB-ID POU4F1_000010
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POU4F1 NM_006237.3 ?/? c.1039C>A r.(?) p.(Pro347Thr)
POU4F1-AS1 NR_047001.1 ?/? n.385-3665G>T r.(?) p.(Pro347Thr)