Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB c.118-2A>G
(
ENST00000392919.4,
ENST00000299314.12,
ENST00000549940.5,
ENST00000549165.1 )
GNPTAB c.118-2A>G ( ENST00000299314.12, ENST00000392919.4, ENST00000549165.1, ENST00000549940.5 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.118-2A>G AND Mucolipidosis type II
- ClinVar Allele ID
- 46971
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.118-2A>G
- 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/RCV000031966
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- not provided
Drugs