Annotation Detail
Information
- Associated Genes
- NRAS
- Associated Variants
-
NRAS p.Gln61Lys (p.Q61K)
(
ENST00000369535.5 )
NRAS p.Gln61Lys (p.Q61K) ( ENST00000369535.5 ) - Associated Disease
- Neurocutaneous melanocytosis
- Source Database
- ClinVar
- Description
- NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Neurocutaneous melanocytosis
- ClinVar Allele ID
- 83949
- ClinVar RefSeq Alternation Syntax
- NM_002524.5:c.181C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144964
- ClinVar Disease
- Neurocutaneous melanocytosis
- Observed Origin Sample
- somatic
- Pubmed
- 18633438
- Pubmed
- 23392294
Drugs