Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Arg1205Ter (p.R1205*)
(
ENST00000299314.12 )
GNPTAB p.Arg1205Ter (p.R1205*) ( ENST00000299314.12 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) AND Mucolipidosis type II
- ClinVar Allele ID
- 46988
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.3613C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-05-09
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032344
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs