rs28937869(C;T)
From SNPedia
| carrier for Ehlers-Danlos syndrome |
| Is a | genotype |
| of | rs28937869 |
| Gene | B4GALT7 |
| Chromosome | 5 |
| Position | 177,608,994 |
| mentioned | by |
| Magnitude | 2.5 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 2.5 | carrier for Ehlers-Danlos syndrome |
| (T;T) | 4 | Ehlers-Danlos syndrome |
This mutation was found via a family where the affected were (T;T) homozygotes.
http://omim.org/entry/604327#0003
In this form fibroblasts produced heparan sulfate with a reduced level of sulfation compared with normal control fibroblasts. Altered heparan sulfate resulted in several changes of the cellular phenotype, including delayed wound repair, altered fibronectin adhesion, actin stress fiber and filopodia formation, and collagen gel contraction.
