NRAS, NRAS proto-oncogene, GTPase, 4893

N. diseases: 611; N. variants: 17
Disease: Nevus ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434595
rs121434595
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0027960
Disease:
Nevus 		0.020 GeneticVariation BEFREE We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy. 26400620 2017
dbSNP: rs121434595
rs121434595
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0027960
Disease:
Nevus 		0.020 GeneticVariation BEFREE Focused amplicon deep sequencing on DNA extracted from the brain tumor and a cutaneous nevus revealed a heterozygous (c.37G>C; p.G13R) substitution in the NRAS gene. 25330907 2014