Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB c.3336-1G>C
(
ENST00000299314.12 )
GNPTAB c.3336-1G>C ( ENST00000299314.12 ) - Associated Disease
- mucolipidosis
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.3336-1G>C AND Mucolipidosis
- ClinVar Allele ID
- 49681
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.3336-1G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2020-04-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001175027
- ClinVar Disease
- Mucolipidosis
- Observed Origin Sample
- germline
Drugs