Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Cys505Tyr (p.C505Y)
(
ENST00000299314.12 )
GNPTAB p.Cys505Tyr (p.C505Y) ( ENST00000299314.12 ) - Associated Disease
- Pseudo-Hurler polydystrophy Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) AND multiple conditions
- ClinVar Allele ID
- 47638
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.1514G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-10-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000762881
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs