ATP6V1A, ATPase H+ transporting V1 subunit A, 523

N. diseases: 147; N. variants: 7
Disease: Seizures ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553709380
rs1553709380
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
CUI: C0036572
Disease:
Seizures 		0.010 GeneticVariation BEFREE Early manifestations, observed in all patients, were developmental delay and febrile seizures, evolving to encephalopathy with profound delay, hypotonic/dyskinetic quadriparesis and intractable multiple seizure types in two patients (p.Pro27Arg, p.Asp100Tyr), and to moderate delay with milder epilepsy in the other two (p.Asp349Asn, p.Asp371Gly). 29668857 2018