219700.G.14.1

Country

United Arab Emirates

HPO Terms

Elevated sweat chloride

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.3:c.1647T>G21NA

Remarks

11 patients (10 homozygous and 1 heterozygous)

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
219700.G.14.2United Arab EmiratesElevated sweat chloride9 patients (8 homozygous and 1 heterozygous)
219700.G.14.3United Arab EmiratesElevated sweat chloride9 patients (5 homozygous and 4 heterozygous)
219700.G.14.4United Arab EmiratesElevated sweat chlorideThis variant was reported in 5% of patients.
219700.G.14.5United Arab EmiratesElevated sweat chlorideMutations reported with a population frequency of <5%
Back to search Result
© CAGS 2024. All rights reserved.