Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Asp467IlefsTer33 (p.D467Ifs*33)
(
ENST00000299314.12,
ENST00000549940.5 )
GNPTAB p.Asp467IlefsTer33 (p.D467Ifs*33) ( ENST00000299314.12, ENST00000549940.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) AND not provided
- ClinVar Allele ID
- 47637
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.1399del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-09-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003153314
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs