SDHA Chromosome 5
Succinate dehydrogenase complex flavoprotein subunit A
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What This Gene Does
This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
"Mitochondrial complex II: succinate dehydrogenase subunits|Flavoproteins"
Locus Type
gene with protein product
Location
5p15.33
Ensembl
ENSG00000073578
Associated Conditions (47)
Mitochondrial complex II deficiency
nuclear type 1
Pheochromocytoma/paraganglioma syndrome 5
Hereditary cancer-predisposing syndrome
Neurodegeneration with ataxia and late-onset optic atrophy
Dilated cardiomyopathy 1GG
Colorectal cancer
SDHA-related disorder
Leigh syndrome
Gastrointestinal stromal tumor
Paraganglioma
Nonpapillary renal cell carcinoma
Hereditary pheochromocytoma and paraganglioma
Clear cell carcinoma of kidney
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Cervical cancer
Hereditary renal cell carcinoma
Carney triad
+27 more conditions
Key Variants
RS1055082816
Conflicting classifications of pathogenicity
Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5
Health Risk
RS1057523165
Conflicting classifications of pathogenicity
Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency, nuclear type 1
Health Risk
RS1060503706
Conflicting classifications of pathogenicity
Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5
Health Risk
RS1060503711
Conflicting classifications of pathogenicity
Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5
Health Risk
RS1060505003
Conflicting classifications of pathogenicity
Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5
Health Risk
RS1062468
Conflicting classifications of pathogenicity
Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5
Health Risk
RS111387770
Conflicting classifications of pathogenicity
Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5
Health Risk
RS111533078
Conflicting classifications of pathogenicity
Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency, nuclear type 1
Health Risk
RS112307877
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex II deficiency, nuclear type 1
Health Risk
RS1126568
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
Health Risk
RS1169912956
Conflicting classifications of pathogenicity
Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5
Health Risk
RS1200591418
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1
Health Risk
All Variants (384)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1173940446 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |
| RS137852767 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |
| RS1553997323 | Health Risk | Pathogenic/Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency, nuclear type 1 |
| RS1553997617 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |
| RS1553998199 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |
| RS1553998254 | Health Risk | Pathogenic/Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency, nuclear type 1 |
| RS1553998613 | Health Risk | Pathogenic/Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency, nuclear type 1 |
| RS1554000360 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |
| RS1554001843 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |
| RS1560980939 | Health Risk | Pathogenic/Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency, nuclear type 1 |
| RS1579402180 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5, Hereditary cancer-predisposing syndrome |
| RS1579437839 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |
| RS1734988578 | Health Risk | Pathogenic/Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency, nuclear type 1 |
| RS1735791499 | Health Risk | Pathogenic/Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency, nuclear type 1 |
| RS200397144 | Health Risk | Pathogenic/Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 5, Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency |
| RS2126542910 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |
| RS2126543272 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |
| RS2126546657 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |
| RS2477285455 | Health Risk | Pathogenic/Likely pathogenic | Dilated cardiomyopathy 1GG, Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency |
| RS2477298642 | Health Risk | Pathogenic/Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency, nuclear type 1 |
| RS2477350916 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS587782077 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1 |
| RS748089700 | Health Risk | Pathogenic/Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 5, Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency |
| RS752360961 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |
| RS775143272 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |
| RS778207102 | Health Risk | Pathogenic/Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency, nuclear type 1 |
| RS778516878 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Hereditary cancer-predisposing syndrome |
| RS778737664 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |
| RS780941330 | Health Risk | Pathogenic/Likely pathogenic | Dilated cardiomyopathy 1GG, Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency |
| RS781764920 | Health Risk | Pathogenic/Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 5, Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency |
| RS876658637 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency |
| RS878854627 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |
| RS878854632 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |
| RS940845256 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma/paraganglioma syndrome 5 |