Annotation Detail

Information
Associated Genes
NRAS
Associated Variants
NRAS p.Gly60Glu (p.G60E) ( ENST00000369535.5 )
NRAS p.Gly60Glu (p.G60E) ( ENST00000369535.5 )
Associated Disease
Noonan syndrome 1
Source Database
ClinVar
Description
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) AND Noonan syndrome 1
ClinVar Allele ID
28942
ClinVar RefSeq Alternation Syntax
NM_002524.5:c.179G>A
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000208552
ClinVar Disease
Noonan syndrome 1
Observed Origin Sample
germline
Drugs