Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Leu257= (p.L257=)
(
ENST00000299314.12,
ENST00000549940.5 )
GNPTAB p.Leu257= (p.L257=) ( ENST00000299314.12, ENST00000549940.5 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) AND Mucolipidosis type II
- ClinVar Allele ID
- 17800
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.771G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2020-07-21
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001831508
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
Drugs