Pachyonychia Congenita Explore Disorder's Alias
An Autosomal dominant mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Skin disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | KRT17/3872 | keratin 17 | 17q21.2 | Chr17, NC_000017.11 (41619442..41624575, complement) |
5134 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | KRT16/3868 | keratin 16 | 17q21.2 | Chr17, NC_000017.11 (41609778..41612767, complement) |
2990 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | KRT6B/3854 | keratin 6B | 12q13.13 | Chr12, NC_000012.12 (52446651..52452146, complement) |
5496 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | KRT6A/3853 | keratin 6A | 12q13.13 | Chr12, NC_000012.12 (52487176..52493257, complement) |
6082 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |