Annotation Detail
Information
- Associated Genes
- NRAS
- Associated Variants
-
NRAS p.Gly60Glu (p.G60E)
(
ENST00000369535.5 )
NRAS p.Gly60Glu (p.G60E) ( ENST00000369535.5 ) - Associated Disease
- RASopathy
- Source Database
- ClinVar
- Description
- NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) AND RASopathy
- ClinVar Allele ID
- 28942
- ClinVar RefSeq Alternation Syntax
- NM_002524.5:c.179G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-07-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001382056
- ClinVar Disease
- RASopathy
- Observed Origin Sample
- germline
Drugs