Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Glu217SerfsTer4 (p.E217Sfs*4)
(
ENST00000549940.5,
ENST00000299314.12 )
GNPTAB p.Glu217SerfsTer4 (p.E217Sfs*4) ( ENST00000299314.12, ENST00000549940.5 ) - Associated Disease
- Mucolipidosis type II
- Source Database
- ClinVar
- Description
- NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) AND Mucolipidosis type II
- ClinVar Allele ID
- 47689
- ClinVar RefSeq Alternation Syntax
- NM_024312.5:c.648_651del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-05-19
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032353
- ClinVar Disease
- Mucolipidosis type II
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs