Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Lys4Gln (p.K4Q)
(
ENST00000549940.5,
ENST00000299314.12,
ENST00000392919.4,
ENST00000549165.1 )
GNPTAB p.Lys4Gln (p.K4Q) ( ENST00000299314.12, ENST00000392919.4, ENST00000549165.1, ENST00000549940.5 ) - Associated Disease
- Mucopolysaccharidosis, MPS-III-A
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) AND Mucopolysaccharidosis, MPS-III-A
- ClinVar Allele ID
- 17813
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.10A>C
- 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/RCV000031965
- ClinVar Disease
- Mucopolysaccharidosis, MPS-III-A
- Observed Origin Sample
- not provided
Drugs