Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000070.2:c.717del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
253600.3.1 | Lebanon | Limb-girdle muscular dystrophy; Elevated circulating creatine kinase concentration | Male | Yes | Yes | |
253600.3.3 | Lebanon | Limb-girdle muscular dystrophy; Elevated circulating creatine kinase concentration | Male | Yes | Yes | Nephew of patient 253600.3.1 |
253600.3.4 | Lebanon | Limb-girdle muscular dystrophy; Elevated circulating creatine kinase concentration | Female | Yes | Yes | Niece of patient 253600.3.1 |