Annotation Detail
Information
- Associated Genes
- PAH
- Associated Variants
-
PAH p.Leu48Ser (p.L48S)
(
ENST00000307000.7,
ENST00000553106.6 )
PAH p.Leu48Ser (p.L48S) ( ENST00000307000.7, ENST00000553106.6 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_000277.3(PAH):c.143T>C (p.Leu48Ser) AND Inborn genetic diseases
- ClinVar Allele ID
- 15647
- ClinVar RefSeq Alternation Syntax
- NM_000277.3:c.143T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354304.2:c.143T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-04-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002512612
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs