Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.His956Tyr (p.H956Y)
(
ENST00000299314.12 )
GNPTAB p.His956Tyr (p.H956Y) ( ENST00000299314.12 ) - Associated Disease
- Pseudo-Hurler polydystrophy
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.2866C>T (p.His956Tyr) AND Pseudo-Hurler polydystrophy
- ClinVar Allele ID
- 47664
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.2866C>T
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032326
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- Observed Origin Sample
- unknown
Drugs