Variant: rs863223953 

    present in Gene: YARS2;DNM1L
    present in Chromosome: 12
    Position on Chromosome: 32731362
    Alleles of this Variant: C/T

rs863223953 in YARS2;DNM1L gene and Abnormality of the endocrine system PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

rs863223953 in YARS2;DNM1L gene and Cerebellar atrophy PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

rs863223953 in YARS2;DNM1L gene and ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION PMID 29899447 2018 Structural basis of mitochondrial receptor binding and constriction by DRP1.

PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

PMID 17460227 2007 A lethal defect of mitochondrial and peroxisomal fission.

PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

PMID 27328748 2016 Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

PMID 26992161 2016 Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.

PMID 27301544 2016 DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.

rs863223953 in YARS2;DNM1L gene and Generalized myoclonic seizures PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

rs863223953 in YARS2;DNM1L gene and Generalized tonic-clonic seizures with focal onset PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

rs863223953 in YARS2;DNM1L gene and Multifocal epileptiform discharges PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

rs863223953 in YARS2;DNM1L gene and OPTIC ATROPHY 5 (disorder) PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

rs863223953 in YARS2;DNM1L gene and Profound intellectual disabilities PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

rs863223953 in YARS2;DNM1L gene and Seizures, Focal PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

rs863223953 in YARS2;DNM1L gene and Status Epilepticus PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.