Annotation Detail

Information
Associated Genes
NRAS
Associated Variants
NRAS p.Pro34Leu (p.P34L) ( ENST00000369535.5 )
NRAS p.Pro34Leu (p.P34L) ( ENST00000369535.5 )
Associated Disease
epidermal nevus
Source Database
ClinVar
Description
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) AND Epidermal nevus
ClinVar Allele ID
48246
ClinVar RefSeq Alternation Syntax
NM_002524.5:c.101C>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2012-04-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000032848
ClinVar Disease
Epidermal nevus
Observed Origin Sample
somatic
Pubmed
22499344
Drugs