Variant: rs267607387 

    present in Gene: KRT12;LOC105371777
    present in Chromosome: 17
    Position on Chromosome: 40866802
    Alleles of this Variant: T/C

rs267607387 in KRT12;LOC105371777 gene and Corneal Dystrophy, Juvenile Epithelial of Meesmann PMID 18245975 2008 A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.

PMID 23222558 2013 Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.

PMID 12543196 2003 Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.

PMID 10781519 2000 A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.

PMID 9171831 1997 Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.

PMID 20577595 2010 Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.

PMID 16227835 2005 Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.

PMID 17653038 2007 A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.

PMID 15148206 2004 A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy.

PMID 10644419 2000 Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.

PMID 18661274 2008 A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.

PMID 24099278 2014 KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.

PMID 16352477 2005 Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.

PMID 9399908 1997 Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.

rs267607387 in KRT12;LOC105371777 gene and Multiple congenital anomalies PMID 9399908 1997 Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.

PMID 19337156 2008 The IC3D classification of the corneal dystrophies.