Variant: rs104894304 

    present in Gene: SDHD
    present in Chromosome: 11
    Position on Chromosome: 112094831
    Alleles of this Variant: A/G

rs104894304 in SDHD gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 22456618 2012 The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

PMID 17563904 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas.

rs104894304 in SDHD gene and Neoplastic Syndromes, Hereditary PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 16080530 2005 Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.

PMID 25275255 2014 Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.

PMID 17563904 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 18692411 2008 Role of the genetic study in the management of carotid body tumor in paraganglioma syndrome.

PMID 16080474 2005 Carotid body paraganglioma and SDHD mutation in a Greek family.

PMID 22456618 2012 The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

PMID 15328326 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

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

rs104894304 in SDHD gene and PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA PMID 17563904 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas.

PMID 25275255 2014 Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.

PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

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

PMID 22456618 2012 The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

PMID 16080474 2005 Carotid body paraganglioma and SDHD mutation in a Greek family.

PMID 23433498 2013 Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.

PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

rs104894304 in SDHD gene and Paraganglioma PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 15328326 2004 Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 20816580 2010 Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer.

PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 10657297 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

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

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

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

rs104894304 in SDHD gene and Paragangliomas with Sensorineural Hearing Loss PMID 17563904 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 16080474 2005 Carotid body paraganglioma and SDHD mutation in a Greek family.

PMID 22456618 2012 The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 23433498 2013 Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.

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

PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 25275255 2014 Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.

rs104894304 in SDHD gene and Pheochromocytoma PMID 11343322 2001 Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PMID 22456618 2012 The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

PMID 27279923 2016 Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

PMID 25275255 2014 Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.

PMID 17563904 2007 Systematic screening and treatment evaluation of hereditary neck paragangliomas.

PMID 16080474 2005 Carotid body paraganglioma and SDHD mutation in a Greek family.

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

PMID 23175444 2013 Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

PMID 23433498 2013 Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.