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KCTD7

From SNPedia

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ClinVarKCTD7
GeneCardsKCTD7
wikipediaKCTD7
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EVSKCTD7
HEFalMpKCTD7
MyGene2KCTD7
23andMeKCTD7
# SNPs13
 Max MagnitudeChromosome positionSummary
rs1026393566,631,041
rs141191660366,639,189
rs199624315066,638,300
rs267607199366,633,425
rs387907246366,638,912
rs387907260366,633,410
rs387907261366,639,180
rs387907262066,638,281
rs387907263366,638,260
rs727502785366,638,956
rs774026720066,638,273
rs796052688066,638,898
rs796052689066,639,066

Recessive mutations in the potassium channel tetramerization domain 7 gene, KCTD7, have been implicated in progressive myoclonus epilepsy.[PMID 27742667]

These mutations include: