274600.3.G

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Country

United Arab Emirates
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Sex

Unknown

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000441.2:c.1150G>C1
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Remarks

Five siblings heterozygous for the variant

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
274600.3.1United Arab EmiratesHearing impairment; HypothyroidismFemaleYesYesProband
274600.3.2United Arab EmiratesHearing impairment; HypothyroidismMaleYesYesSibling of proband
274600.3.3United Arab EmiratesHearing impairment; HypothyroidismMaleYesYesSibling of proband
274600.3.4United Arab EmiratesFemaleMother of proband
274600.3.5United Arab EmiratesMaleFather of proband
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.