Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Ser399Phe (p.S399F)
(
ENST00000549940.5,
ENST00000299314.12 )
GNPTAB p.Ser399Phe (p.S399F) ( ENST00000299314.12, ENST00000549940.5 ) - Associated Disease
- Pseudo-Hurler polydystrophy
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) AND Pseudo-Hurler polydystrophy
- ClinVar Allele ID
- 46972
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.1196C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000031967
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- Observed Origin Sample
- germline
- Observed Origin Sample
- biparental
- Observed Origin Sample
- not provided
Drugs