614565.1.4

Country

Lebanon

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001004334.3:c.1807C>T1

Remarks

Mother of 614565.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
614565.1.1LebanonCongenital stationary night blindness; Congenital stationary night blindness; NystagmusMaleYesYes
614565.1.2LebanonCongenital stationary night blindnessFemaleYesYesSibling of 614565.1.1
614565.1.3LebanonCongenital stationary night blindness; Reduced visual acuityFemaleYesYesSibling of 614565.1.1
614565.1.5LebanonElectronegative electroretinogramMaleYesFather of 614565.1.1
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