Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Cys505Tyr (p.C505Y)
(
ENST00000299314.12 )
GNPTAB p.Cys505Tyr (p.C505Y) ( ENST00000299314.12 ) - Associated Disease
- Legg-Calve-Perthes disease Juvenile osteochondrosis of spine
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) AND multiple conditions
- ClinVar Allele ID
- 47638
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.1514G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2017-01-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000626961
- ClinVar Disease
- Juvenile osteochondrosis of spine
- ClinVar Disease
- Legg-Calve-Perthes disease
- Observed Origin Sample
- unknown
Drugs