Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Ala955Val (p.A955V)
(
ENST00000299314.12 )
GNPTAB p.Lys928Arg (p.K928R) ( ENST00000299314.12 )
GNPTAB p.Ala955Val (p.A955V) ( ENST00000299314.12 )
GNPTAB p.Lys928Arg (p.K928R) ( ENST00000299314.12 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.4(GNPTAB):c.[2783A>G;2864C>T]] AND Mucolipidosis type II
- ClinVar Allele ID
- 47696
- ClinVar Allele ID
- 47697
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.2864C>T
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.2783A>G
- 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/RCV000032360
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- not provided
Drugs