Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Arg46Ter (p.R46*)
(
ENST00000549165.1,
ENST00000392919.4,
ENST00000549940.5,
ENST00000299314.12 )
GNPTAB p.Arg46Ter (p.R46*) ( ENST00000299314.12, ENST00000392919.4, ENST00000549165.1, ENST00000549940.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) AND not provided
- ClinVar Allele ID
- 47634
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.136C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-09-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000760392
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs