Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Ala592Thr (p.A592T)
(
ENST00000299314.12 )
GNPTAB p.Ala592Thr (p.A592T) ( ENST00000299314.12 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) AND not provided
- ClinVar Allele ID
- 106602
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.1774G>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2023-09-30
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003332114
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs