Annotation Detail
Information
- Associated Genes
- NRAS
- Associated Variants
-
NRAS p.Gly12Arg (p.G12R)
(
ENST00000369535.5 )
NRAS p.Gly12Arg (p.G12R) ( ENST00000369535.5 ) - Source Database
- ClinVar
- Description
- NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND Increased nuchal translucency
- ClinVar Allele ID
- 48939
- ClinVar RefSeq Alternation Syntax
- NM_002524.5:c.34G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001526619
- Observed Origin Sample
- de novo
Drugs