OBSCN
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | OBSCN |
| GeneCards | OBSCN |
| Diseases | OBSCN |
| wikipedia | OBSCN |
| OBSCN | |
| gopubmed | OBSCN |
| EVS | OBSCN |
| HEFalMp | OBSCN |
| MyGene2 | OBSCN |
| 23andMe | OBSCN |
| # SNPs | 6 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs182714476 | 0 | 228,377,508 | |
| rs374400 | 0 | 228,347,383 | |
| rs55883237 | 5 | 228,374,584 | |
| rs71180793 | 5 | 228,371,745 | |
| rs79023478 | 1 | 228,315,865 | |
| rs869312933 | 0 | 228,351,314 |
The OBSCN gene encodes obscurin, a huge sarcomeric protein involved in myofibrillogenesis and the cytoskeleton.
Several OBSCN variants have been reported to lead to left ventricular noncompaction, acting in a dominant manner 10.1016/j.jacc.2016.08.052, including:
- rs71180793, also known as Ser7947Pro
- rs55883237, aka c.25367-1G>C
