Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB c.2715+1G>A
(
ENST00000299314.12 )
GNPTAB c.2715+1G>A ( ENST00000299314.12 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.2715+1G>A AND Mucolipidosis type II
- ClinVar Allele ID
- 17807
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.2715+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-09-16
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001274138
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
Drugs