Variant: rs1061517 

    present in Gene: CCDC127;SDHA
    present in Chromosome: 5
    Position on Chromosome: 218356
    Alleles of this Variant: A/C;G;T

rs1061517 in CCDC127;SDHA gene and Mitochondrial Complex II Deficiency PMID 15989954 2005 Crystal structure of mitochondrial respiratory membrane protein complex II.

PMID 25488574 2016 Protein-mediated assembly of succinate dehydrogenase and its cofactors.

PMID 21858060 2011 Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity.

PMID 10746566 2000 Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.

PMID 26722403 2015 A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma.

rs1061517 in CCDC127;SDHA gene and Neoplastic Syndromes, Hereditary PMID 26334176 2016 Expanded genetic screening panel for the Ashkenazi Jewish population.

rs1061517 in CCDC127;SDHA gene and PARAGANGLIOMAS 5 PMID 15989954 2005 Crystal structure of mitochondrial respiratory membrane protein complex II.

PMID 10746566 2000 Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.

PMID 26722403 2015 A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma.

PMID 25488574 2016 Protein-mediated assembly of succinate dehydrogenase and its cofactors.

PMID 21858060 2011 Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity.