Annotation Detail

Information
Associated Genes
NRAS
Associated Variants
NRAS p.Gln61Arg (p.Q61R) ( ENST00000369535.5 )
NRAS p.Gln61Arg (p.Q61R) ( ENST00000369535.5 )
Associated Disease
Noonan syndrome 6
Source Database
ClinVar
Description
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Noonan syndrome 6
ClinVar Allele ID
28939
ClinVar RefSeq Alternation Syntax
NM_002524.5:c.182A>G
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2024-04-04
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003992155
ClinVar Disease
Noonan syndrome 6
Observed Origin Sample
germline
Drugs