Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Leu785Trp (p.L785W)
(
ENST00000299314.12 )
GNPTAB p.Leu785Trp (p.L785W) ( ENST00000299314.12 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.2354T>G (p.Leu785Trp) AND not specified
- ClinVar Allele ID
- 106603
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.2354T>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-03-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003226196
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs