Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Asn759Ter (p.N759*)
(
ENST00000299314.12 )
GNPTAB p.Asn759Ter (p.N759*) ( ENST00000299314.12 ) - Associated Disease
- Pseudo-Hurler polydystrophy Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.2275_2276del (p.Thr758_Asn759insTer) AND multiple conditions
- ClinVar Allele ID
- 47652
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.2275_2276del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2017-12-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000671256
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- unknown
Drugs