Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Tyr1078ThrfsTer13 (p.Y1078Tfs*13)
(
ENST00000299314.12 )
GNPTAB p.Tyr1078ThrfsTer13 (p.Y1078Tfs*13) ( ENST00000299314.12 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.3232del (p.Tyr1078fs) AND Mucolipidosis type II
- ClinVar Allele ID
- 47670
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.3232del
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032332
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- unknown
Drugs