Annotation Detail
Information
- Associated Genes
- PAH
- Associated Variants
-
PAH p.Arg408Trp (p.R408W)
(
ENST00000307000.7,
ENST00000553106.6 )
PAH p.Ile65Ser (p.I65S) ( ENST00000553106.6, ENST00000307000.7 )
PAH p.Ile65Thr (p.I65T) ( ENST00000553106.6, ENST00000307000.7 )
PAH p.Ile65Asn (p.I65N) ( ENST00000553106.6, ENST00000307000.7 )
PAH p.Arg408Trp (p.R408W) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Ile65Ser (p.I65S) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Ile65Thr (p.I65T) ( ENST00000307000.7, ENST00000553106.6 )
PAH p.Ile65Asn (p.I65N) ( ENST00000307000.7, ENST00000553106.6 ) - Associated Disease
- Phenylketonurias
- Source Database
- DisGeNET
- Description
- We describe the application of the novel technique of Glycosylase Mediated Polymorphism Detection (GMPD) to the detection of two of the most common mutations of the PAH gene in the Irish population that cause phenylketonuria (PKU), R408W and I65T, which occur at relative frequencies of 41.0% and 10.4% respectively.
- Pubmed
- 11317360
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.374728566641762
- Year of publication
- 2001
Drugs