Annotation Detail
Information
- Associated Genes
- NEU1
- Associated Variants
-
NEU1 p.Glu377Ter (p.E377*)
(
ENST00000375631.5 )
NEU1 p.Glu377Ter (p.E377*) ( ENST00000375631.5 ) - Associated Disease
- Sialidosis type 1
- Source Database
- ClinVar
- Description
- NM_000434.4(NEU1):c.1129G>T (p.Glu377Ter) AND Sialidosis type 1
- ClinVar Allele ID
- 17482
- ClinVar RefSeq Alternation Syntax
- NM_000434.4:c.1129G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-08-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002547
- ClinVar Disease
- Sialidosis type 1
- Observed Origin Sample
- germline
- Pubmed
- 11063730
Drugs