Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Ser399Phe (p.S399F)
(
ENST00000549940.5,
ENST00000299314.12 )
GNPTAB p.Ser399Phe (p.S399F) ( ENST00000299314.12, ENST00000549940.5 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) AND Mucolipidosis type II
- ClinVar Allele ID
- 46972
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.1196C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-09-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001831620
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
Drugs