Variant: rs879255594 

    present in Gene: OPA1
    present in Chromosome: 3
    Position on Chromosome: 193643436
    Alleles of this Variant: G/A

rs879255594 in OPA1 gene and Behr syndrome PMID 21636302 2011 Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

PMID 25146916 2015 'Behr syndrome' with OPA1 compound heterozygote mutations.

PMID 25012220 2014 Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.