Annotation Detail
Information
- Associated Genes
- NRAS
- Associated Variants
-
NRAS p.Thr50Ile (p.T50I)
(
ENST00000369535.5 )
NRAS p.Thr50Ile (p.T50I) ( ENST00000369535.5 ) - Associated Disease
- Noonan syndrome 6
- Source Database
- ClinVar
- Description
- NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) AND Noonan syndrome 6
- ClinVar Allele ID
- 28941
- ClinVar RefSeq Alternation Syntax
- NM_002524.5:c.149C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2010-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014916
- ClinVar Disease
- Noonan syndrome 6
- Observed Origin Sample
- germline
- Pubmed
- 19966803
Drugs