Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Arg1205Ter (p.R1205*)
(
ENST00000299314.12 )
GNPTAB p.Arg1205Ter (p.R1205*) ( ENST00000299314.12 ) - Associated Disease
- Pseudo-Hurler polydystrophy
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) AND Pseudo-Hurler polydystrophy
- ClinVar Allele ID
- 46988
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.3613C>T
- 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/RCV000031986
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- Observed Origin Sample
- not provided
Drugs