Gene: FGFR3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78311289
rs78311289
FGFR3
0.720 GeneticVariation BEFREE Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. 21510009

2011
dbSNP: rs78311289
rs78311289
FGFR3
0.720 GeneticVariation BEFREE Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 18000903

2007
dbSNP: rs78311289
rs78311289
FGFR3
C 0.720 GeneticVariation CLINVAR Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. 18000903

2007
dbSNP: rs587779383
rs587779383
FGFR3
C 0.700 GeneticVariation CLINVAR Familial acanthosis nigricans due to K650T FGFR3 mutation. 17875876

2007
dbSNP: rs28931615
rs28931615
FGFR3
0.040 GeneticVariation BEFREE Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. 31016899

2019
dbSNP: rs121913105
rs121913105
FGFR3
0.040 GeneticVariation BEFREE Herein, we detail three new cases of AN</span> with p.K650T FGFR3 mutation, and review the 21 known cases. 29068064

2018
dbSNP: rs121913105
rs121913105
FGFR3
0.040 GeneticVariation BEFREE The p.Lys650Thr pathogenic variant in FGFR3 has been linked to acanthosis nigricans without significant craniofacial or skeletal abnormalities. 28181399

2017
dbSNP: rs121913105
rs121913105
FGFR3
0.040 GeneticVariation BEFREE The proband and ten relatives presented HCH plus AN and the analysis of FGFR3 showed the p.Lys650Thr mutation. 18583390

2008
dbSNP: rs28931615
rs28931615
FGFR3
0.040 GeneticVariation BEFREE Bilateral basilar venous atresia is most common in patients with the FGFR3 ala391glu mutation and crouzonoid features with acanthosis nigricans, but may be found in patients with FGFR2 mutations. 11039354

2000
dbSNP: rs121913105
rs121913105
FGFR3
0.040 GeneticVariation BEFREE A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. 10053006

1999
dbSNP: rs28931615
rs28931615
FGFR3
0.040 GeneticVariation BEFREE All three patients with the crouzonoid phenotype and acanthosis nigricans had the same mutation in exon 10 of FGFR3 (Ala391Glu). 10541159

1999
dbSNP: rs28931615
rs28931615
FGFR3
0.040 GeneticVariation BEFREE A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. 8880573

1996