Home > Gene Browser > NDUFAF7

NDUFAF7

Synonyms
C2orf56, MidA, PRO1853
External resources
Summary
This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants.

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
1,209
Likely pathogenic
3
VUS
2,907
Likely benign
1,695
Benign
0

Patient phenotypes

Proportions of phenotypes among 1209 patients carring pathogenic or likely pathogenic variants on NDUFAF7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35%
Abnormality of the musculoskeletal system
22.4%
Abnormality of the cardiovascular system
20.9%
Abnormality of head or neck
18%
Abnormality of the ear
15.7%
Abnormality of the eye
13.2%
Growth abnormality
11.8%
Abnormality of the genitourinary system
7.9%
Abnormality of the immune system
6.2%
Abnormality of the integument
6%
Abnormality of the digestive system
6%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of limbs
4.8%
Abnormality of the endocrine system
3.4%
Abnormality of prenatal development or birth
2.5%
Abnormality of the respiratory system
2.3%
Neoplasm
1.9%
Constitutional symptom
0.9%
Abnormality of the breast
0.4%
Abnormal cellular phenotype
0.2%
Abnormality of the voice
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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