Annotation Detail
Information
- Associated Genes
- NRAS
- Associated Variants
-
NRAS p.Gly12Asp (p.G12D)
(
ENST00000369535.5 )
NRAS p.Gly12Asp (p.G12D) ( ENST00000369535.5 ) - Associated Disease
- Noonan syndrome and Noonan-related syndrome
- Source Database
- ClinVar
- Description
- NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Noonan syndrome and Noonan-related syndrome
- ClinVar Allele ID
- 48247
- ClinVar RefSeq Alternation Syntax
- NM_002524.5:c.35G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-12-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001813214
- ClinVar Disease
- Noonan syndrome and Noonan-related syndrome
- Observed Origin Sample
- germline
Drugs