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 ) - Source Database
- ClinVar
- Description
- NM_000277.3(PAH):c.165T>G (p.Phe55Leu) AND See cases
- 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
- Clinical Significance Last Update
- 2020-11-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002251964
- Observed Origin Sample
- germline
Drugs