Variant: rs1558005340 

    present in Gene: ATP1A2
    present in Chromosome: 1
    Position on Chromosome: 160127638
    Alleles of this Variant: C/-

rs1558005340 in ATP1A2 gene and Arthrogryposis PMID 30690204 2020 Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

rs1558005340 in ATP1A2 gene and Epilepsy PMID 30690204 2020 Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

rs1558005340 in ATP1A2 gene and Hydrops Fetalis PMID 30690204 2020 Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

rs1558005340 in ATP1A2 gene and Malformations of Cortical Development, Group II PMID 30690204 2020 Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.