Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Lys898SerfsTer13 (p.K898Sfs*13)
(
ENST00000299314.12 )
GNPTAB p.Lys898SerfsTer13 (p.K898Sfs*13) ( ENST00000299314.12 ) - Associated Disease
- Pseudo-Hurler polydystrophy
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) AND Pseudo-Hurler polydystrophy
- ClinVar Allele ID
- 47661
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.2693del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-07-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032323
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs