Annotation Detail
Information
- Associated Genes
- PAH
- Associated Variants
-
PAH p.Arg408Trp (p.R408W)
(
ENST00000307000.7,
ENST00000553106.6 )
PAH p.Phe39Leu (p.F39L) ( ENST00000553106.6, ENST00000307000.7 )
PAH p.Arg408Trp (p.R408W) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Phe39Leu (p.F39L) ( ENST00000307000.7, ENST00000553106.6 ) - Associated Disease
- Classical phenylketonuria
- Source Database
- DisGeNET
- Description
- We have used the fluorescent multiplex ARMS method for the identification of common phenylketonuria mutations in Northern Ireland (R408W, 165T and F39L) together with the analysis of a polymorphic short tandem repeat site at the human phenylalanine hydroxylase locus.
- Pubmed
- 8808316
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.388522903896075
- Year of publication
- 1995
Drugs