Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002529.4:c.850+1G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 256800.5.1 | Kuwait | Pain insensitivity; Anhidrosis | Female | Yes | Patient from 'family KI-105' in the publication | |
| 256800.5.G | Kuwait | Relatives of 256800.5.1 & 256800.5.2 (parents + 1 sister) |