Annotation Detail

Information
Associated Genes
NRAS
Associated Variants
NRAS p.Gln61Arg (p.Q61R) ( ENST00000369535.5 )
NRAS p.Gln61Arg (p.Q61R) ( ENST00000369535.5 )
Associated Disease
large congenital melanocytic nevus
Source Database
ClinVar
Description
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) AND Large congenital melanocytic nevus
ClinVar Allele ID
28939
ClinVar RefSeq Alternation Syntax
NM_002524.5:c.182A>G
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2023-10-14
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000114744
ClinVar Disease
Large congenital melanocytic nevus
Observed Origin Sample
somatic
Pubmed
12727991
Pubmed
22499344
Pubmed
18633438
Pubmed
23392294
Pubmed
24006476
Drugs