Annotation Detail
Information
- Associated Genes
- NEU1
- Associated Variants
-
NEU1 p.Gly243Arg (p.G243R)
(
ENST00000375631.5 )
NEU1 p.Gly243Arg (p.G243R) ( ENST00000375631.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000434.4(NEU1):c.727G>A (p.Gly243Arg) AND not provided
- Observed Origin Sample
- germline
- ClinVar Allele ID
- 17489
- ClinVar RefSeq Alternation Syntax
- NM_000434.4:c.727G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-06-20
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000078816
- ClinVar Disease
- not provided
Drugs