Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Arg1189Ter (p.R1189*)
(
ENST00000299314.12 )
GNPTAB p.Arg1189Ter (p.R1189*) ( ENST00000299314.12 ) - Associated Disease
- mucolipidosis
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) AND Mucolipidosis
- ClinVar Allele ID
- 17803
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.3565C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-08-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001193438
- ClinVar Disease
- Mucolipidosis
- Observed Origin Sample
- germline
Drugs