Variant: rs1554504656 

    present in Gene: RHOBTB2
    present in Chromosome: 8
    Position on Chromosome: 23007600
    Alleles of this Variant: C/G

rs1554504656 in RHOBTB2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 PMID 29768694 2018 De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.

PMID 29276004 2018 Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.