Annotation Detail
Information
- Associated Genes
- NRAS
- Associated Variants
-
NRAS p.Gly13Asp (p.G13D)
(
ENST00000369535.5 )
NRAS p.Gly13Asp (p.G13D) ( ENST00000369535.5 ) - Associated Disease
- Noonan syndrome 6
- Source Database
- ClinVar
- Description
- NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Noonan syndrome 6
- ClinVar Allele ID
- 28940
- ClinVar RefSeq Alternation Syntax
- NM_002524.5:c.38G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-03-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022690
- ClinVar Disease
- Noonan syndrome 6
- Observed Origin Sample
- unknown
- Pubmed
- 19775298
- Pubmed
- 17332249
- Pubmed
- 17517660
- Pubmed
- 2407301
- Pubmed
- 2989702
- Pubmed
- 21079152
Drugs