Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Arg46= (p.R46=)
(
ENST00000549165.1,
ENST00000299314.12,
ENST00000549940.5,
ENST00000392919.4 )
GNPTAB p.Arg46= (p.R46=) ( ENST00000299314.12, ENST00000392919.4, ENST00000549165.1, ENST00000549940.5 ) - Associated Disease
- Pseudo-Hurler polydystrophy
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.136C>A (p.Arg46=) AND Pseudo-Hurler polydystrophy
- ClinVar Allele ID
- 237191
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.136C>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-04-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000282952
- ClinVar Disease
- Pseudo-Hurler polydystrophy
- Observed Origin Sample
- germline
Drugs