Variant: rs80338842 

    present in Gene: TIMM8B;SDHD
    present in Chromosome: 11
    Position on Chromosome: 112086910
    Alleles of this Variant: G/A;C

rs80338842 in TIMM8B;SDHD gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 21945342 2012 Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 15066320 2004 Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.

PMID 17576205 2007 Novel SDHD germ-line mutations in pheochromocytoma patients.

PMID 12782822 2003 Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

PMID 21792967 2011 Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

PMID 26096992 2015 Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 17406045 2007 A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency.

rs80338842 in TIMM8B;SDHD gene and Neoplastic Syndromes, Hereditary PMID 21792967 2011 Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

PMID 12782822 2003 Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

PMID 21945342 2012 Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 17406045 2007 A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency.

rs80338842 in TIMM8B;SDHD gene and PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 12612654 2003 A role for mitochondrial enzymes in inherited neoplasia and beyond.

PMID 12782822 2003 Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

PMID 15066320 2004 Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 17576205 2007 Novel SDHD germ-line mutations in pheochromocytoma patients.

PMID 21792967 2011 Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.

PMID 21945342 2012 Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

rs80338842 in TIMM8B;SDHD gene and Paragangliomas with Sensorineural Hearing Loss PMID 12612654 2003 A role for mitochondrial enzymes in inherited neoplasia and beyond.

PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 17576205 2007 Novel SDHD germ-line mutations in pheochromocytoma patients.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 21792967 2011 Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.

PMID 21945342 2012 Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 15066320 2004 Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 12782822 2003 Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

rs80338842 in TIMM8B;SDHD gene and Pheochromocytoma PMID 17576205 2007 Novel SDHD germ-line mutations in pheochromocytoma patients.

PMID 19454582 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

PMID 19351833 2009 Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.

PMID 15066320 2004 Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

PMID 21945342 2012 Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

PMID 11391796 2001 Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PMID 12612654 2003 A role for mitochondrial enzymes in inherited neoplasia and beyond.

PMID 12782822 2003 Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

PMID 21792967 2011 Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?