Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001814.6:c.890-1G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 245000.4.01 | Jordan | Palmoplantar hyperkeratosis; Generalized periodontitis | Female | Yes | Yes | |
| 245000.4.02 | Jordan | Palmoplantar hyperkeratosis ; Generalized periodontitis | Female | Yes | Yes | Sister of 245000.4.01 |
| 245000.4.03 | Jordan | Palmoplantar hyperkeratosis ; Generalized periodontitis | Female | Yes | Yes | Sister of 245000.4.01 |
| 245000.4.04 | Jordan | Palmoplantar hyperkeratosis ; Generalized periodontitis | Female | Yes | Yes | Sister of 245000.4.01 |
| 245000.4.05 | Jordan | Palmoplantar hyperkeratosis ; Generalized periodontitis | Male | Yes | Yes | Second cousin of 245000.4.01 |
| 245000.4.06 | Jordan | Male | Yes | Yes | Unaffected sibling of 245000.4.01 | |
| 245000.4.07 | Jordan | Female | Yes | Yes | Unaffected sibling of 245000.4.01 | |
| 245000.4.08 | Jordan | Female | Yes | Yes | Unaffected sibling of 245000.4.01 | |
| 245000.4.10 | Jordan | Male | Yes | Unaffected father of 245000.4.01 | ||
| 245000.4.11 | Jordan | Female | Yes | Unaffected mother of 245000.4.01 | ||
| 245000.4.12 | Jordan | Male | Yes | Yes | Unaffected sibling of 245000.4.05 | |
| 245000.4.13 | Jordan | Male | Yes | Unaffected father of 245000.4.05 | ||
| 245000.4.14 | Jordan | Female | Yes | Unaffected mother of 245000.4.05 |