Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.H102L
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SDHD

NM_003002.4:p.H102L

Associated Papers

High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas.

Guha A et al.

Frontiers in Endocrinology, 2023

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Garrett A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

34906457 (PubMed )
Supplement: mmc1.xlsx › SupTable2_Variant_Counts

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.

Lin S et al.

European Journal of Human Genetics : Ejhg, 2021

34012134 (PubMed )
Supplement: 41431_2021_887_MOESM1_ESM.docx

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

A novel G106D alteration of the SDHD gene in a pedigree with familial paraganglioma.

Ogawa K et al.

American Journal of Medical Genetics. Part A, 2006

Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: description of one novel germline mutation.

Velasco A et al.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2005

Mutations of the SDHB and SDHD genes.

Pawlu C et al.

Familial Cancer, 2005

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

Riemann K et al.

Cancer Genetics and Cytogenetics, 2004

A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment.

Renard L et al.

Head & Neck, 2003

The pressure rises: update on the genetics of phaeochromocytoma.

Maher ER et al.

Human Molecular Genetics, 2002

Hereditary paraganglioma targets diverse paraganglia.

Baysal BE

Journal of Medical Genetics, 2002

Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

Baysal BE et al.

Journal of Medical Genetics, 2002

Phenotypic dichotomy in mitochondrial complex II genetic disorders.

Baysal BE et al.

Journal of Molecular Medicine (berlin, Germany), 2001

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

Taschner PE et al.

Genes, Chromosomes & Cancer, 2001

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

Braun S et al.

Anticancer Research, 0

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