Annotation Detail
Information
- Associated Genes
- TPH2
- Associated Variants
-
TPH2 p.Pro312= (p.P312=)
(
ENST00000333850.4 )
TPH2 p.Pro312= (p.P312=) ( ENST00000333850.4 ) - Associated Disease
- Tryptophan 5-monooxygenase deficiency
- Source Database
- ClinVar
- Description
- NM_173353.4(TPH2):c.936A>G (p.Pro312=) AND Tryptophan 5-monooxygenase deficiency
- ClinVar Allele ID
- 326588
- ClinVar RefSeq Alternation Syntax
- NM_173353.4:c.936A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-03-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000305884
- ClinVar Disease
- Tryptophan 5-monooxygenase deficiency
- Observed Origin Sample
- germline
Drugs