KRT12 Chromosome 17
Keratin 12
Upload your DNA to see your personal genotypes for variants in KRT12.
What This Gene Does
KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Keratins, type I
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000187242
Associated Conditions (5)
KRT12-related disorder
Inborn genetic diseases
Corneal dystrophy
Meesmann
1
Key Variants
RS147584242
Conflicting classifications of pathogenicity
KRT12-related disorder, Inborn genetic diseases, KRT12-related disorder
Health Risk
RS149532038
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200941376
Conflicting classifications of pathogenicity
Corneal dystrophy, Meesmann, 1
Health Risk
RS370179526
Conflicting classifications of pathogenicity
Corneal dystrophy, Meesmann, 1
Health Risk
RS61167390
Likely pathogenic
Health Risk
RS28936695
Pathogenic
Corneal dystrophy, Meesmann, 1
Health Risk
RS57218384
Pathogenic
Corneal dystrophy, Meesmann, 1
Health Risk
RS58162394
Pathogenic
Corneal dystrophy, Meesmann, 1
Health Risk
RS58343600
Pathogenic
Corneal dystrophy, Meesmann, 1
Health Risk
RS58410481
Pathogenic
Corneal dystrophy, Meesmann, 1
Health Risk
RS58918655
Pathogenic
Corneal dystrophy, Meesmann, 1
Health Risk
RS886038212
Pathogenic
Corneal dystrophy, Meesmann, 1
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147584242 | Health Risk | Conflicting classifications of pathogenicity | KRT12-related disorder, Inborn genetic diseases, KRT12-related disorder |
| RS149532038 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200941376 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Meesmann, 1 |
| RS370179526 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Meesmann, 1 |
| RS61167390 | Health Risk | Likely pathogenic | — |
| RS28936695 | Health Risk | Pathogenic | Corneal dystrophy, Meesmann, 1 |
| RS57218384 | Health Risk | Pathogenic | Corneal dystrophy, Meesmann, 1 |
| RS58162394 | Health Risk | Pathogenic | Corneal dystrophy, Meesmann, 1 |
| RS58343600 | Health Risk | Pathogenic | Corneal dystrophy, Meesmann, 1 |
| RS58410481 | Health Risk | Pathogenic | Corneal dystrophy, Meesmann, 1 |
| RS58918655 | Health Risk | Pathogenic | Corneal dystrophy, Meesmann, 1 |
| RS886038212 | Health Risk | Pathogenic | Corneal dystrophy, Meesmann, 1 |
| RS267607387 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |