Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB c.3335+6T>G
(
ENST00000299314.12 )
GNPTAB c.3335+6T>G ( ENST00000299314.12 ) - Associated Disease
- Pseudo-Hurler polydystrophy
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.3335+6T>G AND Pseudo-Hurler polydystrophy
- ClinVar Allele ID
- 17812
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.3335+6T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2006-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002902
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- Observed Origin Sample
- germline
- Pubmed
- 16465621
Drugs