HRAS, HRas proto-oncogene, GTPase, 3265

N. diseases: 698; N. variants: 29
Disease: Benign melanocytic nevus ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894228
rs104894228
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C1456781
Disease:
Benign melanocytic nevus 		0.010 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