ATP6V1A, ATPase H+ transporting V1 subunit A, 523

N. diseases: 147; N. variants: 7
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553710664
rs1553710664
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
CUI: C4693934
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 		0.800 GeneticVariation UNIPROT De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. 29668857 2018
dbSNP: rs1553710664
rs1553710664
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
CUI: C4693934
Disease:
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 		A 0.800 CausalMutation CLINVAR