Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Val1130AlafsTer10 (p.V1130Afs*10)
(
ENST00000299314.12 )
GNPTAB p.Val1130AlafsTer10 (p.V1130Afs*10) ( ENST00000299314.12 )
GNPTAB p.Ser1131Phe (p.S1131F) ( ENST00000299314.12 )
GNPTAB p.Ser1131Phe (p.S1131F) ( ENST00000299314.12 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.4(GNPTAB):c.[3388_3389insC;3392C>T] AND Mucolipidosis type II
- ClinVar Allele ID
- 47698
- ClinVar Allele ID
- 47699
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.3392C>T
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.3388_3389insC
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-05-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032361
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- not provided
Drugs