Male
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000492.3:c.11C>A | 3 | 0.063 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
219700.G.13.1 | Lebanon | Elevated sweat chloride | Mutation identified in 34% of 44 alleles that were studied | |||
219700.G.13.2 | Lebanon | Elevated sweat chloride | Mutation identified in 27% of 44 alleles that were studied | |||
219700.G.13.3 | Lebanon | Elevated sweat chloride | Mutation identified in 7% of 44 alleles that were studied | |||
219700.G.13.5 | Lebanon | Elevated sweat chloride | No | CF patients from families '1 & 13' in the publication |