SDHC Chromosome 1
Succinate dehydrogenase complex subunit C
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What This Gene Does
This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]
Gene Info
Gene Group
Mitochondrial complex II: succinate dehydrogenase subunits
Locus Type
gene with protein product
Location
1q23.3
Ensembl
ENSG00000143252
Associated Conditions (13)
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 3
Gastrointestinal stromal tumor
Hereditary pheochromocytoma and paraganglioma
Cowden syndrome
SDHC-related disorder
Carney-Stratakis syndrome
Malignant tumor of breast
Ovarian cancer
Pheochromocytoma
Inherited phaeochromocytoma and paraganglioma excluding NF1
Carney triad
Rhabdomyosarcoma
Key Variants
RS1047677628
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
Health Risk
RS1060501387
Conflicting classifications of pathogenicity
Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
Health Risk
RS1273832397
Conflicting classifications of pathogenicity
Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
Health Risk
RS1277488324
Conflicting classifications of pathogenicity
Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome
Health Risk
RS1328389180
Conflicting classifications of pathogenicity
Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
Health Risk
RS1331533952
Conflicting classifications of pathogenicity
Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome
Health Risk
RS1378160712
Conflicting classifications of pathogenicity
Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome
Health Risk
RS1413662099
Conflicting classifications of pathogenicity
Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome
Health Risk
RS1442391429
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
Health Risk
RS145535502
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
Health Risk
RS1468426986
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
Health Risk
RS148566767
Conflicting classifications of pathogenicity
Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (109)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1047677628 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor |
| RS1060501387 | Health Risk | Conflicting classifications of pathogenicity | Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS1273832397 | Health Risk | Conflicting classifications of pathogenicity | Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS1277488324 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1328389180 | Health Risk | Conflicting classifications of pathogenicity | Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3 |
| RS1331533952 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1378160712 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1413662099 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1442391429 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor |
| RS145535502 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3 |
| RS1468426986 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS148566767 | Health Risk | Conflicting classifications of pathogenicity | Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS1485675090 | Health Risk | Conflicting classifications of pathogenicity | Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS1553262444 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1571890344 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1571899223 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1571899229 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1670710360 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1672548902 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS186995249 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS200375156 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3 |
| RS200761743 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor |
| RS201210474 | Health Risk | Conflicting classifications of pathogenicity | Pheochromocytoma/paraganglioma syndrome 3, Pheochromocytoma, Hereditary pheochromocytoma and paraganglioma |
| RS202044160 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS2102307516 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS2102336180 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor |
| RS2102385111 | Health Risk | Conflicting classifications of pathogenicity | SDHC-related disorder, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3 |
| RS2526365022 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS371462564 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3 |
| RS373731336 | Health Risk | Conflicting classifications of pathogenicity | Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS377566366 | Health Risk | Conflicting classifications of pathogenicity | Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS536197277 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS747093483 | Health Risk | Conflicting classifications of pathogenicity | Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS749159544 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS756382502 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS756676111 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS760243208 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS760678574 | Health Risk | Conflicting classifications of pathogenicity | Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS763357013 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma/paraganglioma syndrome 3, Hereditary pheochromocytoma and paraganglioma |
| RS766007157 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3 |
| RS766486676 | Health Risk | Conflicting classifications of pathogenicity | Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS772450693 | Health Risk | Conflicting classifications of pathogenicity | Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS778212096 | Health Risk | Conflicting classifications of pathogenicity | Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS786202080 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor |
| RS794727791 | Health Risk | Conflicting classifications of pathogenicity | Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome |
| RS961762320 | Health Risk | Conflicting classifications of pathogenicity | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor |
| RS1057517818 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor |
| RS1249046874 | Health Risk | Likely pathogenic | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary pheochromocytoma and paraganglioma |
| RS1363265634 | Health Risk | Likely pathogenic | Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1553261757 | Health Risk | Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |