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 |
---|---|---|---|---|---|---|
256800.5.2 | Kuwait | Pain insensitivity; Anhidrosis | Female | Yes | Sister of 256800.5.1 | |
256800.5.G | Kuwait | Relatives of 256800.5.1 & 256800.5.2 (parents + 1 sister) |