Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Arg364Ter (p.R364*)
(
ENST00000549940.5,
ENST00000299314.12 )
GNPTAB p.Arg364Ter (p.R364*) ( ENST00000299314.12, ENST00000549940.5 ) - Associated Disease
- Mucolipidosis type II Pseudo-Hurler polydystrophy
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) AND multiple conditions
- ClinVar Allele ID
- 47624
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.1090C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000669478
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs