rs121913482, FGFR3

N. diseases: 45
Disease: NEVUS, EPIDERMAL (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
0.840 GeneticVariation BEFREE The detection of the R248C mutation in a proportion of blood leukocytes and a slight scoliosis suggest an EN syndrome. 21639936 2011
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
0.840 GeneticVariation BEFREE Molecular analysis of a biopsy specimen obtained from the epidermal nevus revealed a heterozygous R248C hotspot mutation in FGFR3, whereas in normal skin the FGFR3 wild-type allele was exclusively found. 18642369 2008
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
0.840 GeneticVariation BEFREE The R248C mutation was found in 6/23 (26.1%) EN but it was absent from unaffected skin. 17255960 2007
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
0.840 GeneticVariation BEFREE The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi. 16841094 2006
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
0.840 CausalMutation CLINVAR
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
0.840 GeneticVariation UNIPROT