Annotation Detail

Information
Associated Genes
NRAS
Associated Variants
NRAS p.Gln61Lys (p.Q61K) ( ENST00000369535.5 )
NRAS p.Gln61Lys (p.Q61K) ( ENST00000369535.5 )
Associated Disease
large congenital melanocytic nevus
Source Database
ClinVar
Description
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Large congenital melanocytic nevus
ClinVar Allele ID
83949
ClinVar RefSeq Alternation Syntax
NM_002524.5:c.181C>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2020-05-21
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000114746
ClinVar Disease
Large congenital melanocytic nevus
Observed Origin Sample
germline
Observed Origin Sample
somatic
Pubmed
18633438
Pubmed
23392294
Drugs