Female
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NC_000016.10:g.(?_90019633)_(90019768_?)del | 2 | |||
NM_032119.4:c.1849G>A | 1 | |||
NM_032119.4:c.6994A>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
616726.1.2 | United Arab Emirates | Male | No | Healthy father of the proband. Both ADGRV1 variants are on one allele. | ||
616726.1.3 | United Arab Emirates | Female | No | Healthy mother of the proband. |