Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064797245
rs1064797245
ATP1A3
0.710 GeneticVariation BEFREE Interestingly, two patients (mother and son) showed a variant c.2266C>T (p.R756C), while the third carried the c.2452G>A (p.E818K) variant, commonly described in association with CAPOS syndrome. 29397530

2018
dbSNP: rs1064797245
rs1064797245
ATP1A3
A 0.710 GeneticVariation CLINVAR Mosaicism in ATP1A3-related disorders: not just a theoretical risk. 27726050

2017
dbSNP: rs1064797245
rs1064797245
ATP1A3
A 0.710 GeneticVariation CLINVAR Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum. 27268479

2016
dbSNP: rs1064797245
rs1064797245
ATP1A3
A 0.710 GeneticVariation CLINVAR De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. 27634470

2016
dbSNP: rs1064797245
rs1064797245
ATP1A3
A 0.710 GeneticVariation CLINVAR Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 26400718

2015