Annotation Detail
Information
- Associated Genes
- PAH
- Associated Variants
-
PAH p.Pro211Thr (p.P211T)
(
ENST00000553106.6,
ENST00000307000.7 )
PAH p.Pro211Thr (p.P211T) ( ENST00000307000.7, ENST00000553106.6 ) - Associated Disease
- 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
- Source Database
- ClinVar
- Description
- NM_000277.3(PAH):c.631C>A (p.Pro211Thr) AND 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
- ClinVar Allele ID
- 108502
- ClinVar RefSeq Alternation Syntax
- NM_000277.3:c.631C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354304.2:c.631C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-09-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001192748
- ClinVar Disease
- 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
- Observed Origin Sample
- germline
Drugs