Variant: rs104893951 

    present in Gene: FOXC1
    present in Chromosome: 6
    Position on Chromosome: 1610780
    Alleles of this Variant: T/A;C

rs104893951 in FOXC1 gene and AXENFELD-RIEGER SYNDROME, TYPE 3 PMID 9792859 1998 Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

PMID 24914578 2016 A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases.

PMID 23239455 2013 Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation.

PMID 17210863 2007 Analyses of a novel L130F missense mutation in FOXC1.

PMID 16936096 2006 Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

PMID 27804176 2017 Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome.

PMID 25786029 2015 Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.

PMID 11179011 2001 Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1.

PMID 17653043 2007 Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome.

PMID 16449236 2006 Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.

PMID 11170889 2001 A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.

PMID 19279310 2009 Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia.

PMID 15477465 2004 Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family.

PMID 12454026 2002 Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.

PMID 14578375 2003 Identification and analysis of a novel mutation in the FOXC1 forkhead domain.

PMID 11589884 2001 A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome.

PMID 11740218 2001 Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.

PMID 15277473 2004 The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions.

PMID 14506133 2003 Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1.

PMID 12592227 2003 Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India.

rs104893951 in FOXC1 gene and IRIS HYPOPLASIA WITH GLAUCOMA PMID 12614756 2003 A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.

PMID 20881294 2011 Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

PMID 19279310 2009 Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia.

PMID 18484311 2008 Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.

PMID 9620769 1998 The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.

PMID 19793056 2009 Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis.