Annotation Detail
Information
- Associated Genes
- PAH
- Associated Variants
-
PAH p.Arg408Trp (p.R408W)
(
ENST00000307000.7,
ENST00000553106.6 )
PAH p.Arg408Trp (p.R408W) ( ENST00000307000.7, ENST00000553106.6 ) - Associated Disease
- Classical phenylketonuria
- Source Database
- DisGeNET
- Description
- The R408W phenylketonuria mutation in Europe has arisen by recurrent mutation in the human phenylalanine hydroxylase (PAH) locus and is associated with two major PAH haplotypes.
- Pubmed
- 12655548
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.388522903896075
- Year of publication
- 2003
Drugs