KRT6C Chromosome 12
Keratin 6C
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What This Gene Does
Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jul 2009]
Gene Info
Gene Group
Keratins, type II
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000170465
Associated Conditions (5)
Inborn genetic diseases
Focal palmoplantar keratoderma
Palmoplantar keratoderma
nonepidermolytic
focal or diffuse
Key Variants
RS142242212
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS368905186
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS575947038
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS771924434
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS267607474
Pathogenic
Focal palmoplantar keratoderma, Focal palmoplantar keratoderma
Health Risk
RS267607475
Pathogenic
Focal palmoplantar keratoderma, Focal palmoplantar keratoderma
Health Risk
RS587777292
Pathogenic/Likely pathogenic
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142242212 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368905186 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS575947038 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771924434 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS267607474 | Health Risk | Pathogenic | Focal palmoplantar keratoderma, Focal palmoplantar keratoderma |
| RS267607475 | Health Risk | Pathogenic | Focal palmoplantar keratoderma, Focal palmoplantar keratoderma |
| RS587777292 | Health Risk | Pathogenic/Likely pathogenic | Palmoplantar keratoderma, nonepidermolytic, focal or diffuse |