Annotation Detail
Information
- Associated Genes
- NRAS
- Associated Variants
-
NRAS p.Gln61Pro (p.Q61P)
(
ENST00000369535.5 )
NRAS p.Gln61Pro (p.Q61P) ( ENST00000369535.5 ) - Associated Disease
- Noonan syndrome 6
- Source Database
- ClinVar
- Description
- NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) AND Noonan syndrome 6
- ClinVar Allele ID
- 263939
- ClinVar RefSeq Alternation Syntax
- NM_002524.5:c.182A>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-09-30
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003155143
- ClinVar Disease
- Noonan syndrome 6
- Observed Origin Sample
- germline
Drugs