KCTD7
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | KCTD7 |
| GeneCards | KCTD7 |
| Diseases | KCTD7 |
| wikipedia | KCTD7 |
| KCTD7 | |
| gopubmed | KCTD7 |
| EVS | KCTD7 |
| HEFalMp | KCTD7 |
| MyGene2 | KCTD7 |
| 23andMe | KCTD7 |
| # SNPs | 14 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs10263935 | 0 | 66,631,041 | |
| rs141191660 | 3 | 66,639,189 | |
| rs199624315 | 0 | 66,638,300 | |
| rs267607199 | 3 | 66,633,425 | |
| rs387907246 | 3 | 66,638,912 | |
| rs387907260 | 3 | 66,633,410 | |
| rs387907261 | 3 | 66,639,180 | |
| rs387907262 | 0 | 66,638,281 | |
| rs387907263 | 3 | 66,638,260 | |
| rs727502785 | 3 | 66,638,956 | |
| rs750811871 | 0 | 66,638,993 | |
| rs774026720 | 0 | 66,638,273 | |
| rs796052688 | 0 | 66,638,898 | |
| rs796052689 | 0 | 66,639,066 |
Recessive mutations in the potassium channel tetramerization domain 7 gene, KCTD7, have been implicated in progressive myoclonus epilepsy.[PMID 27742667]
These mutations include:
- rs267607199, also known as R99X
- rs387907246, aka R184C
- rs387907260, R94W
- rs727502785, c.594delC
- rs387907261, N273I
- rs387907263, L108M
- rs141191660, Y276C
