Annotation Detail

Information
Associated Genes
NRAS
Associated Variants
NRAS p.Gly12Asp (p.G12D) ( ENST00000369535.5 )
NRAS p.Gly12Asp (p.G12D) ( ENST00000369535.5 )
Associated Disease
juvenile myelomonocytic leukemia
Source Database
ClinVar
Description
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Juvenile myelomonocytic leukemia
ClinVar Allele ID
48247
ClinVar RefSeq Alternation Syntax
NM_002524.5:c.35G>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2013-12-05
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000144963
ClinVar Disease
Juvenile myelomonocytic leukemia
Observed Origin Sample
somatic
Pubmed
24284627
Pubmed
22499344
Pubmed
17332249
Drugs