Genomic variant #0001290024

Chromosome 13
DNA change (genomic) (Relative to hg19 / GRCh37) g.79176048_79176050del
Reference Copied from the Exome Variant Server
DB-ID POU4F1_000020
Frequency 9/11162
Freq. EA 4/7372
Freq. AA 5/3790
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POU4F1 NM_006237.3 ?/? c.760_762del r.(?) p.(Gly254del)
POU4F1-AS1 NR_047001.1 ?/? n.385-3388_385-3386del r.(?) p.(Gly254del)