Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Cys528ValfsTer19 (p.C528Vfs*19)
(
ENST00000299314.12 )
GNPTAB p.Cys528ValfsTer19 (p.C528Vfs*19) ( ENST00000299314.12 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) AND Mucolipidosis type II
- ClinVar Allele ID
- 46973
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.1581del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-08-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000031968
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
Drugs