Variant: rs782316919 

    present in Gene: SURF1
    present in Chromosome: 9
    Position on Chromosome: 133351970
    Alleles of this Variant: AG/-

rs782316919 in SURF1 gene and Dysmorphic features PMID 16225813 2005 Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

PMID 26762927 2016 Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

PMID 19780766 2009 SURF1 missense mutations promote a mild Leigh phenotype.

PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.

PMID 26443249 2015 Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

rs782316919 in SURF1 gene and Leigh Disease PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

PMID 16326995 2006 Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.

PMID 18583168 2009 High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

rs782316919 in SURF1 gene and Muscle hypotonia PMID 26443249 2015 Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

PMID 16225813 2005 Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

PMID 19780766 2009 SURF1 missense mutations promote a mild Leigh phenotype.

PMID 26762927 2016 Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.