Annotation Detail

Information
Associated Genes
NRAS
Associated Variants
NRAS p.Gln61Leu (p.Q61L) ( ENST00000369535.5 )
NRAS p.Gln61Leu (p.Q61L) ( ENST00000369535.5 )
Associated Disease
RASopathy
Source Database
ClinVar
Description
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) AND RASopathy
ClinVar Allele ID
362753
ClinVar RefSeq Alternation Syntax
NM_002524.5:c.182A>T
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2022-03-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002524687
ClinVar Disease
RASopathy
Observed Origin Sample
germline
Drugs