Female
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000445.5:c.5258insG | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
226670.1.1 | Lebanon | Abnormal blistering of the skin; Respiratory insufficiency | Female | No | Yes | |
226670.1.3 | Lebanon | Male | Father of 226670.1.1 |