Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Leu1137Ter (p.L1137*)
(
ENST00000299314.12 )
GNPTAB p.Leu1137Ter (p.L1137*) ( ENST00000299314.12 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter) AND Mucolipidosis type II
- ClinVar Allele ID
- 47674
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.3410T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-07-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032337
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs