Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Trp894Ter (p.W894*)
(
ENST00000299314.12 )
GNPTAB p.Trp894Ter (p.W894*) ( ENST00000299314.12 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.2681G>A (p.Trp894Ter) AND Mucolipidosis type II
- ClinVar Allele ID
- 17806
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.2681G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002895
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 16116615
Drugs