Variant: rs104894306 

    present in Gene: TIMM8B;SDHD
    present in Chromosome: 11
    Position on Chromosome: 112087868
    Alleles of this Variant: C/T

rs104894306 in TIMM8B;SDHD gene and Neoplastic Syndromes, Hereditary PMID 11605159 2001 The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

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

PMID 16314641 2005 Genetic testing in pheochromocytoma or functional paraganglioma.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

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

rs104894306 in TIMM8B;SDHD gene and PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

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

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

PMID 11605159 2001 The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

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

PMID 22517554 2012 Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

rs104894306 in TIMM8B;SDHD gene and Paragangliomas with Sensorineural Hearing Loss PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

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

PMID 22517554 2012 Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

PMID 11605159 2001 The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

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

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

rs104894306 in TIMM8B;SDHD gene and Pheochromocytoma PMID 21348866 2012 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

PMID 11391798 2001 Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

PMID 22517554 2012 Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.

PMID 16317055 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

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 11605159 2001 The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.