Annotation Detail

Information
Associated Genes
NRAS
Associated Variants
NRAS p.Gly12Asp (p.G12D) ( ENST00000369535.5 )
NRAS p.Gly12Asp (p.G12D) ( ENST00000369535.5 )
Source Database
ClinVar
Description
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Cardiovascular phenotype
ClinVar Allele ID
48247
ClinVar RefSeq Alternation Syntax
NM_002524.5:c.35G>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2024-01-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV004018703
Observed Origin Sample
germline
Drugs