Variant: rs776679653 

    present in Gene: ISCA1
    present in Chromosome: 9
    Position on Chromosome: 86266174
    Alleles of this Variant: C/T

rs776679653 in ISCA1 gene and Aplasia/Hypoplasia of the corpus callosum PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

rs776679653 in ISCA1 gene and Generalized tonic seizures PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

rs776679653 in ISCA1 gene and Increased serum lactate PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

rs776679653 in ISCA1 gene and Leukodystrophy PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

rs776679653 in ISCA1 gene and MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

PMID 30105122 2018 Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in <i>ISCA1</i>.

rs776679653 in ISCA1 gene and Microcephaly (physical finding) PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

rs776679653 in ISCA1 gene and Multiple Mitochondrial Dysfunctions Syndrome PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

rs776679653 in ISCA1 gene and Muscle Spasticity PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

rs776679653 in ISCA1 gene and Pachygyria PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

rs776679653 in ISCA1 gene and Pediatric failure to thrive PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

rs776679653 in ISCA1 gene and Poor school performance PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.