Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Phe374Leu (p.F374L)
(
ENST00000549940.5,
ENST00000299314.12 )
GNPTAB p.Phe374Leu (p.F374L) ( ENST00000299314.12, ENST00000549940.5 ) - Associated Disease
- Pseudo-Hurler polydystrophy
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu) AND Pseudo-Hurler polydystrophy
- ClinVar Allele ID
- 17814
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.1120T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002904
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- Observed Origin Sample
- germline
- Pubmed
- 19197337
Drugs