Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001170754.2:c.337C>T | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
244400.3.2 | United Arab Emirates | Male | Father of 244400.3.1 | |||
244400.3.3 | United Arab Emirates | Female | Mother of 244400.3.1 | |||
244400.3.4 | United Arab Emirates | Pulmonic stenosis; Dextrocardia; Recurrent respiratory infections | Yes | 'Patient 2' in the publication (cousin of 244400.3.1). Primary ciliary dyskinesia-related gene detected in this patient. | ||
244400.3.5 | United Arab Emirates | Male | Father of 244400.3.4 | |||
244400.3.6 | United Arab Emirates | Female | Mother of 244400.3.4 |