Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Lys732= (p.K732=)
(
ENST00000299314.12 )
GNPTAB p.Lys732= (p.K732=) ( ENST00000299314.12 ) - Associated Disease
- Pseudo-Hurler polydystrophy Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.2196G>A (p.Lys732=) AND multiple conditions
- ClinVar Allele ID
- 1536749
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.2196G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-09-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002173660
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
Drugs