rs398122970(-;AAACCGCCCC)
From SNPedia
| Possible miscall in Ancestry v2 data; otherwise, carrier of a mutation leading to congenital heart and spine defects |
| Is a | genotype |
| of | rs398122970 |
| Gene | HES7 |
| Chromosome | 17 |
| Position | 8,121,854 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;AAACCGCCCC) | 3 | Possible miscall in Ancestry v2 data; otherwise, carrier of a mutation leading to congenital heart and spine defects |
| (AAACCGCCCC;AAACCGCCCC) | 8 | Possible miscall in Ancestry v2 data; otherwise, congenital heart and spine defects likely |
Unaffected in absence of another pathogenic HES7 gene mutation; see rs398122970
