Female
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000131.4:c.291+1G>C | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
227500.3.2 | Lebanon | Male | Yes | No | Unaffected brother of 227500.3.1 | |
227500.3.3 | Lebanon | Female | Yes | No | Unaffected sister of 227500.3.1 | |
227500.3.4 | Lebanon | Male | Yes | Unaffected father of 227500.3.1 | ||
227500.3.5 | Lebanon | Female | Yes | No | Unaffected mother of 227500.3.1 |