Annotation Detail
Information
- Associated Genes
- NEU1
- Associated Variants
-
NEU1 p.Val217Met (p.V217M)
(
ENST00000375631.5 )
NEU1 p.Val217Met (p.V217M) ( ENST00000375631.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000434.4(NEU1):c.649G>A (p.Val217Met) AND not provided
- ClinVar Allele ID
- 17488
- ClinVar RefSeq Alternation Syntax
- NM_000434.4:c.649G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000480504
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs