Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000257.4:c.1357C>T |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
192600.2.1 | Lebanon | Exertional dyspnea; Palpitations; Atrial flutter; Hypertrophic cardiomyopathy | Male | Yes | Proband | |
192600.2.2 | Lebanon | Hypertrophic cardiomyopathy | Female | Mother of 192600.2.1 | ||
192600.2.4 | Lebanon | Abnormal echocardiogram | Female | Yes | Daughter of 192600.2.1 |