Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615066.1.2 | Saudi Arabia | Recurrent fractures | Female | Yes | Yes | Relative of 615066.1.1 |