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