Annotation Detail
Information
- Associated Genes
- NRAS
- Associated Variants
-
NRAS p.Gly12Ala (p.G12A)
(
ENST00000369535.5 )
NRAS p.Gly12Ala (p.G12A) ( ENST00000369535.5 ) - Associated Disease
- Noonan syndrome and Noonan-related syndrome
- Source Database
- ClinVar
- Description
- NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) AND Noonan syndrome and Noonan-related syndrome
- ClinVar Allele ID
- 216786
- ClinVar RefSeq Alternation Syntax
- NM_002524.5:c.35G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-08-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001813426
- ClinVar Disease
- Noonan syndrome and Noonan-related syndrome
- Observed Origin Sample
- germline
Drugs