Annotation Detail
Information
- Associated Genes
- PAH
- Associated Variants
-
PAH p.Ala403Val (p.A403V)
(
ENST00000307000.7,
ENST00000553106.6 )
PAH p.Ala403Val (p.A403V) ( ENST00000307000.7, ENST00000553106.6 ) - Associated Disease
- PAH-related disorder
- Source Database
- ClinVar
- Description
- NM_000277.3(PAH):c.1208C>T (p.Ala403Val) AND PAH-related disorder
- ClinVar Allele ID
- 98638
- ClinVar RefSeq Alternation Syntax
- NM_001354304.2:c.1208C>T
- ClinVar RefSeq Alternation Syntax
- NM_000277.3:c.1208C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-11-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003915048
- ClinVar Disease
- PAH-related disorder
- Observed Origin Sample
- germline
Drugs