Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Asp1018Gly (p.D1018G)
(
ENST00000299314.12 )
GNPTAB p.Asp1018Gly (p.D1018G) ( ENST00000299314.12 ) - Associated Disease
- Mucolipidosis type II Pseudo-Hurler polydystrophy
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly) AND multiple conditions
- ClinVar Allele ID
- 49680
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.3053A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-11-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001852693
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
Drugs