612347.1.4

Country

Lebanon

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001127670.3:c.226G>A1

Remarks

Mother of 612347.1.1, 612347.1.2 and 612347.1.3

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
612347.1.1LebanonProlonged QT interval; Severe sensorineural hearing impairment;MaleNo
612347.1.2LebanonProlonged QT interval; Severe sensorineural hearing impairment;FemaleNoSibling of 612347.1.1
612347.1.3LebanonProlonged QT interval; Severe sensorineural hearing impairment;FemaleNoSibling of 612347.1.1
612347.1.5LebanonMaleFather of 612347.1.1, 612347.1.2 and 612347.1.3
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