Annotation Detail
Information
- Associated Genes
- PNKD CATIP-AS2
- Associated Variants
-
PNKD p.Arg368Trp (p.R368W)
(
ENST00000273077.9,
ENST00000258362.7,
ENST00000436005.3,
ENST00000685415.1,
ENST00000687736.1,
ENST00000688179.1,
ENST00000689816.1,
ENST00000691220.1,
ENST00000692295.1 )
PNKD p.Arg368Trp (p.R368W) ( ENST00000258362.7, ENST00000273077.9, ENST00000436005.3, ENST00000685415.1, ENST00000687736.1, ENST00000688179.1, ENST00000689816.1, ENST00000691220.1, ENST00000692295.1 ) - Associated Disease
- paroxysmal nonkinesigenic dyskinesia 1
- Source Database
- ClinVar
- Description
- NM_015488.5(PNKD):c.1102C>T (p.Arg368Trp) AND Paroxysmal nonkinesigenic dyskinesia 1
- ClinVar Allele ID
- 1133184
- ClinVar RefSeq Alternation Syntax
- NM_015488.5:c.1102C>T
- ClinVar RefSeq Alternation Syntax
- NM_022572.4:c.1030C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-02-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003130528
- ClinVar Disease
- Paroxysmal nonkinesigenic dyskinesia 1
- Observed Origin Sample
- germline
Drugs