Disease: Spinocerebellar ataxia 13 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894700
rs104894700
Entrez Id: 3748
Gene Symbol: KCNC3
KCNC3
CUI: C1854488
Disease:
Spinocerebellar ataxia 13 		0.800 GeneticVariation UNIPROT Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases. 25756792 2015
dbSNP: rs104894700
rs104894700
Entrez Id: 3748
Gene Symbol: KCNC3
KCNC3
CUI: C1854488
Disease:
Spinocerebellar ataxia 13 		0.800 GeneticVariation UNIPROT KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking. 25152487 2014
dbSNP: rs104894700
rs104894700
Entrez Id: 3748
Gene Symbol: KCNC3
KCNC3
CUI: C1854488
Disease:
Spinocerebellar ataxia 13 		0.800 GeneticVariation UNIPROT Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface. 23734863 2013
dbSNP: rs104894700
rs104894700
Entrez Id: 3748
Gene Symbol: KCNC3
KCNC3
CUI: C1854488
Disease:
Spinocerebellar ataxia 13 		0.800 GeneticVariation UNIPROT Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13. 22289912 2012
dbSNP: rs104894700
rs104894700
Entrez Id: 3748
Gene Symbol: KCNC3
KCNC3
CUI: C1854488
Disease:
Spinocerebellar ataxia 13 		0.800 GeneticVariation UNIPROT Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). 21479265 2011
dbSNP: rs104894700
rs104894700
Entrez Id: 3748
Gene Symbol: KCNC3
KCNC3
CUI: C1854488
Disease:
Spinocerebellar ataxia 13 		0.800 GeneticVariation UNIPROT KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. 19953606 2010
dbSNP: rs104894700
rs104894700
Entrez Id: 3748
Gene Symbol: KCNC3
KCNC3
CUI: C1854488
Disease:
Spinocerebellar ataxia 13 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs104894700
rs104894700
Entrez Id: 3748
Gene Symbol: KCNC3
KCNC3
CUI: C1854488
Disease:
Spinocerebellar ataxia 13 		0.800 GeneticVariation UNIPROT Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. 16501573 2006
dbSNP: rs104894700
rs104894700
Entrez Id: 3748
Gene Symbol: KCNC3
KCNC3
CUI: C1854488
Disease:
Spinocerebellar ataxia 13 		T 0.800 CausalMutation CLINVAR