Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Gln205Pro (p.Q205P)
(
ENST00000299314.12,
ENST00000549940.5 )
GNPTAB p.Val182Asp (p.V182D) ( ENST00000549940.5, ENST00000299314.12 )
GNPTAB p.Gln205Pro (p.Q205P) ( ENST00000299314.12, ENST00000549940.5 )
GNPTAB p.Val182Asp (p.V182D) ( ENST00000299314.12, ENST00000549940.5 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.4(GNPTAB):c.[545T>A;614A>C] AND Mucolipidosis type II
- ClinVar Allele ID
- 47700
- ClinVar Allele ID
- 47701
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.614A>C
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.545T>A
- 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/RCV000032362
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- not provided
Drugs