Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Ser685LysfsTer61 (p.S685Kfs*61)
(
ENST00000299314.12 )
GNPTAB p.Ser685LysfsTer61 (p.S685Kfs*61) ( ENST00000299314.12 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) AND Inborn genetic diseases
- ClinVar Allele ID
- 46976
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.2053_2057del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-11-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002513288
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs