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NDUFAF6

Synonyms
C8orf38, FRTS5, MC1DN17
External resources
Summary
This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
13
Likely pathogenic
12
VUS
3,100
Likely benign
1,658
Benign
0

Patient phenotypes

Proportions of phenotypes among 25 patients carrying pathogenic or likely pathogenic variants on NDUFAF6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the musculoskeletal system
28%
Abnormality of the cardiovascular system
24%
Abnormality of head or neck
20%
Abnormality of the eye
16%
Abnormality of limbs
12%
Abnormality of prenatal development or birth
12%
Abnormality of the ear
12%
Growth abnormality
12%
Abnormality of blood and blood-forming tissues
8%
Abnormality of the digestive system
8%
Abnormality of the genitourinary system
8%
Abnormality of the integument
8%
Abnormality of the endocrine system
4%
Abnormality of the immune system
4%
Abnormality of the respiratory system
4%
Constitutional symptom
4%
Neoplasm
4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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