Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000492.4:c.1520_1522del | 15 | 0.363 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
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.13.4 | Lebanon | Elevated sweat chloride | Male | 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 |