Annotation Detail
Information
- Associated Genes
- TYR
- Associated Variants
-
TYR p.Arg299His (p.R299H)
(
ENST00000263321.6 )
TYR p.Arg299His (p.R299H) ( ENST00000263321.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000372.5(TYR):c.896G>A (p.Arg299His) AND not provided
- ClinVar Allele ID
- 18835
- ClinVar RefSeq Alternation Syntax
- NM_000372.5:c.896G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-11
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000085979
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
Drugs