Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Asp190Val (p.D190V)
(
ENST00000299314.12,
ENST00000549940.5 )
GNPTAB p.Asp190Val (p.D190V) ( ENST00000299314.12, ENST00000549940.5 ) - Associated Disease
- Mucolipidosis type II Pseudo-Hurler polydystrophy
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) AND multiple conditions
- ClinVar Allele ID
- 46990
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.569A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000632919
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
Drugs