Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Ile348Leu (p.I348L)
(
ENST00000549940.5,
ENST00000299314.12 )
GNPTAB p.Ile348Leu (p.I348L) ( ENST00000299314.12, ENST00000549940.5 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) AND Mucolipidosis type II
- ClinVar Allele ID
- 47623
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.1042A>C
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2019-05-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032285
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs