FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Trichilemmoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1480286871
rs1480286871
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0334263
Disease:
Trichilemmoma 		0.010 GeneticVariation BEFREE The high frequency of HRAS activating mutations, including the c.182A>G substitution, which was rather rare in NS, suggests that most trichilemmomas are authentic neoplasms. 24890286 2014