Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001258281.1:c.447+1G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 120435.1.01 | Lebanon | Ovarian neoplasm | Female | Yes | Proband | |
| 120435.1.02 | Lebanon | Ovarian neoplasm; Colon cancer | Female | Yes | Sister of 120435.1.01 | |
| 120435.1.03 | Lebanon | Colon cancer | Male | Yes | Brother of 120435.1.01 | |
| 120435.1.04 | Lebanon | Colon cancer; Death in middle age | Male | Yes | Brother of 120435.1.01 | |
| 120435.1.05 | Lebanon | Colon cancer; Neoplasm of the small intestine | Male | Yes | Brother of 120435.1.01 | |
| 120435.1.06 | Lebanon | Colon cancer; Neoplasm of the small intestine | Male | Yes | Brother of 120435.1.01 | |
| 120435.1.07 | Lebanon | Colon cancer; Brain neoplasm | Male | Yes | First cousin of 120435.1.01 | |
| 120435.1.08 | Lebanon | Colon cancer; | Male | Yes | Son of 120435.1.01 | |
| 120435.1.09 | Lebanon | Female | Yes | Unaffected daughter of 120435.1.01 | ||
| 120435.1.10 | Lebanon | Female | Yes | Unaffected daughter of 120435.1.01 | ||
| 120435.1.11 | Lebanon | Female | Yes | Unaffected daughter of 120435.1.01 | ||
| 120435.1.12 | Lebanon | Female | Yes | Unaffected niece of 120435.1.01, daughter of 120435.1.02 | ||
| 120435.1.13 | Lebanon | Male | Yes | Unaffected nephew of 120435.1.01, son of 120435.1.02 | ||
| 120435.1.15 | Lebanon | Male | Yes | Unaffected nephew of 120435.1.01, son of 120435.1.05 | ||
| 120435.1.16 | Lebanon | Female | Yes | Unaffected niece of 120435.1.01, daughter of 120435.1.06 | ||
| 120435.1.17 | Lebanon | Female | Yes | Unaffected niece of 120435.1.01 | ||
| 120435.1.18 | Lebanon | Female | Yes | Unaffected first cousin of 120435.1.01, Sister of 120435.1.07 | ||
| 120435.1.19 | Lebanon | Breast carcinoma; Death in early adulthood | Female | Yes | No | Patient belongs to the same family described in Akoum et al, 2006. |