Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Arg1031Ter (p.R1031*)
(
ENST00000299314.12 )
GNPTAB p.Arg1031Ter (p.R1031*) ( ENST00000299314.12 ) - Associated Disease
- Pseudo-Hurler polydystrophy
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) AND Pseudo-Hurler polydystrophy
- ClinVar Allele ID
- 47668
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.3091C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-09-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002288528
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- Observed Origin Sample
- germline
Drugs