Annotation Detail
Information
- Associated Genes
- PAH
- Associated Variants
-
PAH p.Ala395Pro (p.A395P)
(
ENST00000553106.6,
ENST00000307000.7 )
PAH p.Ala395Pro (p.A395P) ( ENST00000307000.7, ENST00000553106.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000277.3(PAH):c.1183G>C (p.Ala395Pro) AND not provided
- ClinVar Allele ID
- 108283
- ClinVar RefSeq Alternation Syntax
- NM_001354304.2:c.1183G>C
- ClinVar RefSeq Alternation Syntax
- NM_000277.3:c.1183G>C
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000088781
- ClinVar Disease
- not provided
- Observed Origin Sample
- not provided
Drugs