FGFR3, fibroblast growth factor receptor 3, 2261
N. diseases: 654; N. variants: 55
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
T | 0.840 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.840 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.840 | GeneticVariation | BEFREE | The R248C mutation appears to be a hot spot for FGFR3 mutations in epidermal nevi. | 16841094 | 2006 | |||||||
|
|
|
0.840 | GeneticVariation | BEFREE | The R248C mutation was found in 6/23 (26.1%) EN but it was absent from unaffected skin. | 17255960 | 2007 | |||||||
|
|
|
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 | |||||||
|
|
|
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 |