Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.His1158GlnfsTer15 (p.H1158Qfs*15)
(
ENST00000299314.12 )
GNPTAB p.His1158GlnfsTer15 (p.H1158Qfs*15) ( ENST00000299314.12 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.3474_3475del (p.His1158fs) AND Mucolipidosis type II
- ClinVar Allele ID
- 17805
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.3474_3475del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-05-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002894
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
- Pubmed
- 16116615
Drugs