Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Ala955Val (p.A955V)
(
ENST00000299314.12 )
GNPTAB p.Ala955Val (p.A955V) ( ENST00000299314.12 ) - Associated Disease
- Mucolipidosis type II Pseudo-Hurler polydystrophy
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.2864C>T (p.Ala955Val) AND multiple conditions
- ClinVar Allele ID
- 47696
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.2864C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-08-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001852912
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
Drugs