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SDHA

Synonyms
CMD1GG, FP, MC2DN1, NDAXOA, PGL5, SDH1, SDH2, SDHF
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
12
Likely pathogenic
1
VUS
27,424
Likely benign
1,092
Benign
711

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on SDHA gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
46.2%
Abnormality of the nervous system
46.2%
Abnormality of head or neck
38.5%
Abnormality of the ear
30.8%
Abnormality of the cardiovascular system
23.1%
Abnormality of the integument
23.1%
Abnormality of limbs
15.4%
Abnormality of the eye
15.4%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the endocrine system
7.7%
Abnormality of the immune system
7.7%
Growth abnormality
7.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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