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SNP information rs33927012

RS33927012

Normal allele: AA

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

Polymorphism rs33927012 is related to topics like this:

Mitochondria dna

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

Research and publications:

  17298   Immunologic studies and clinical follow-up HBsAg-positive polyarteritis nodosa.

  14985401   Genetic and epigenetic profile of sporadic pheochromocytomas.

  16912137   High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.

  17639058   Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma.

  18551016   High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.

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

  19802898   Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

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

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

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

  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.

  25333069   Disease variants in genomes of 44 centenarians.

  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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