KRT17 Chromosome 17
Keratin 17
Upload your DNA to see your personal genotypes for variants in KRT17.
What This Gene Does
This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
Keratins, type I
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000128422
Associated Conditions (5)
Inborn genetic diseases
Pachyonychia congenita 2
Steatocystoma multiplex
Nonsyndromic congenital nail disorder 4
Abnormality of the skin
Key Variants
RS139367104
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146900210
Conflicting classifications of pathogenicity
Pachyonychia congenita 2, Steatocystoma multiplex, Pachyonychia congenita 2
Health Risk
RS56690581
Likely pathogenic
Health Risk
RS267607412
Pathogenic
Health Risk
RS28928896
Pathogenic
Pachyonychia congenita 2, Steatocystoma multiplex, Pachyonychia congenita 2
Health Risk
RS28928897
Pathogenic
Steatocystoma multiplex, Pachyonychia congenita 2, Pachyonychia congenita 2
Health Risk
RS28928898
Pathogenic
Pachyonychia congenita 2, Pachyonychia congenita 2
Health Risk
RS28928899
Pathogenic
Pachyonychia congenita 2, Pachyonychia congenita 2, Pachyonychia congenita 2
Health Risk
RS28933088
Pathogenic
Pachyonychia congenita 2, Pachyonychia congenita 2
Health Risk
RS28933089
Pathogenic
Pachyonychia congenita 2, Pachyonychia congenita 2
Health Risk
RS370554150
Pathogenic
Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4
Health Risk
RS57674130
Pathogenic
Pachyonychia congenita 2, Pachyonychia congenita 2
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139367104 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146900210 | Health Risk | Conflicting classifications of pathogenicity | Pachyonychia congenita 2, Steatocystoma multiplex, Pachyonychia congenita 2 |
| RS56690581 | Health Risk | Likely pathogenic | — |
| RS267607412 | Health Risk | Pathogenic | — |
| RS28928896 | Health Risk | Pathogenic | Pachyonychia congenita 2, Steatocystoma multiplex, Pachyonychia congenita 2 |
| RS28928897 | Health Risk | Pathogenic | Steatocystoma multiplex, Pachyonychia congenita 2, Pachyonychia congenita 2 |
| RS28928898 | Health Risk | Pathogenic | Pachyonychia congenita 2, Pachyonychia congenita 2 |
| RS28928899 | Health Risk | Pathogenic | Pachyonychia congenita 2, Pachyonychia congenita 2, Pachyonychia congenita 2 |
| RS28933088 | Health Risk | Pathogenic | Pachyonychia congenita 2, Pachyonychia congenita 2 |
| RS28933089 | Health Risk | Pathogenic | Pachyonychia congenita 2, Pachyonychia congenita 2 |
| RS370554150 | Health Risk | Pathogenic | Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4 |
| RS57674130 | Health Risk | Pathogenic | Pachyonychia congenita 2, Pachyonychia congenita 2 |
| RS58730926 | Health Risk | Pathogenic | Steatocystoma multiplex, Pachyonychia congenita 2, Inborn genetic diseases |
| RS59151893 | Health Risk | Pathogenic | Pachyonychia congenita 2, Abnormality of the skin, Steatocystoma multiplex |
| RS59977263 | Health Risk | Pathogenic | Pachyonychia congenita 2, Pachyonychia congenita 2 |
| RS121912478 | Health Risk | Pathogenic/Likely pathogenic | Pachyonychia congenita 2, Steatocystoma multiplex, Pachyonychia congenita 2 |