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SNP information rs34677591

RS34677591

Normal allele: GG

Mutation of SDHD, a mitochondrial complex II gene increases the likelihood of paraganglioma disease.

Polymorphism rs34677591 is related to topics like this:

Mitochondria dna

The mitochondria contain circular chromosomes known as mitochondrial DNA and are organelles...

Research and publications:

  10657297   Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

  11156372   Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

  11526495   Germline SDHD mutation in paraganglioma of the spinal cord.

  12007193   Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas.

  12111639   Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

  12386824   Absence of somatic SDHD mutations in sporadic neuroendocrine tumors and detection of two germline variants in paraganglioma patients.

  15032977   SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism.

  18678321   Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

  21979946   Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.

  22584711   Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome.

  22703879   Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

  23175444   Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

  23666964   A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

  24033266   A systematic approach to assessing the clinical significance of genetic variants.

  24297550   PATH-SCAN: a reporting tool for identifying clinically actionable variants.

  24728327   Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

  25694510   Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  28634180   A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.

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