FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Kallmann Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759233744
rs759233744
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0162809
Disease:
Kallmann Syndrome 		0.010 GeneticVariation BEFREE We performed mutation analysis of FGFR1 in a 23-year-old female patient with KS and found a missense mutation (c.1072C>T) in exon 8A of FGFR1. 20139426 2010