rs121434595, NRAS

N. diseases: 19
Disease: Benign melanocytic nevus ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Benign melanocytic nevus
CUI: C1456781
Disease: Benign melanocytic 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
Benign melanocytic nevus
CUI: C1456781
Disease: Benign melanocytic 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