610356.2.7

Country

United Arab Emirates

HPO Terms

Cone dystrophy
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_133497.4:c.427G>T2

Remarks

Daughter of 610356.2.1

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
610356.2.1United Arab EmiratesCone dystrophyMaleYesYes
610356.2.2United Arab EmiratesCone dystrophyFemaleYesYesFirst cousin of 610356.2.1
610356.2.3United Arab EmiratesCone dystrophyMaleYesYesFirst cousin of 610356.2.1 Sibling of 610356.2.2
610356.2.4United Arab EmiratesCone dystrophyFemaleYesYesFirst cousin of 610356.2.1 Sibling of 610356.2.2
610356.2.5United Arab EmiratesCone dystrophyFemaleYesYesFirst cousin of 610356.2.1 Sibling of 610356.2.2
610356.2.6United Arab EmiratesCone dystrophyFemaleYesYesDaughter of 610356.2.1
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