Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Arg364Ter (p.R364*)
(
ENST00000549940.5,
ENST00000299314.12 )
GNPTAB p.Arg364Ter (p.R364*) ( ENST00000299314.12, ENST00000549940.5 ) - Associated Disease
- mucolipidosis
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) AND Mucolipidosis
- ClinVar Allele ID
- 47624
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.1090C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-02-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000780317
- ClinVar Disease
- Mucolipidosis
- Observed Origin Sample
- germline
- Observed Origin Sample
- inherited
Drugs