219700.G.13.2

Country

Lebanon

HPO Terms

Elevated sweat chloride

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.3:c.3909C>G120.2

Remarks

Mutation identified in 27% of 44 alleles that were studied

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
219700.G.13.1LebanonElevated sweat chlorideMutation identified in 34% of 44 alleles that were studied
219700.G.13.3LebanonElevated sweat chlorideMutation identified in 7% of 44 alleles that were studied
219700.G.13.4LebanonElevated sweat chlorideMaleMutation identified in 7% of 44 alleles that were studied
219700.G.13.5LebanonElevated sweat chlorideNoCF patients from families '1 & 13' in the publication
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