Annotation Detail
Information
- Associated Genes
- PAH
- Associated Variants
-
PAH p.Phe55Leu (p.F55L)
(
ENST00000307000.7,
ENST00000553106.6 )
PAH p.Phe55Leu (p.F55L) ( ENST00000307000.7, ENST00000553106.6 ) - Associated Disease
- phenylketonuria
- Source Database
- ClinVar
- Description
- NM_000277.3(PAH):c.165T>G (p.Phe55Leu) AND Phenylketonuria
- ClinVar Allele ID
- 98641
- ClinVar RefSeq Alternation Syntax
- NM_000277.3:c.165T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354304.2:c.165T>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-29
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000150092
- ClinVar Disease
- Phenylketonuria
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs