245000.4.03

Country

Jordan

HPO Terms

Palmoplantar hyperkeratosis ; Generalized periodontitis
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001814.6:c.890-1G>A2

Remarks

Sister of 245000.4.01

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
245000.4.01JordanPalmoplantar hyperkeratosis; Generalized periodontitisFemaleYesYes
245000.4.02JordanPalmoplantar hyperkeratosis ; Generalized periodontitisFemaleYesYesSister of 245000.4.01
245000.4.04JordanPalmoplantar hyperkeratosis ; Generalized periodontitisFemaleYesYesSister of 245000.4.01
245000.4.05JordanPalmoplantar hyperkeratosis ; Generalized periodontitisMaleYesYesSecond cousin of 245000.4.01
245000.4.06JordanMaleYesYesUnaffected sibling of 245000.4.01
245000.4.07JordanFemaleYesYesUnaffected sibling of 245000.4.01
245000.4.08JordanFemaleYesYesUnaffected sibling of 245000.4.01
245000.4.09JordanMaleYesYesUnaffected sibling of 245000.4.01
245000.4.10JordanMaleYesUnaffected father of 245000.4.01
245000.4.11JordanFemaleYesUnaffected mother of 245000.4.01
245000.4.12JordanMaleYesYesUnaffected sibling of 245000.4.05
245000.4.13JordanMaleYesUnaffected father of 245000.4.05
245000.4.14JordanFemaleYesUnaffected mother of 245000.4.05
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