Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Ala592Thr (p.A592T)
(
ENST00000299314.12 )
GNPTAB p.Ala592Thr (p.A592T) ( ENST00000299314.12 ) - Associated Disease
- Pseudo-Hurler polydystrophy
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) AND Pseudo-Hurler polydystrophy
- ClinVar Allele ID
- 106602
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.1774G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-11-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000087103
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- Observed Origin Sample
- germline
- Observed Origin Sample
- inherited
Drugs