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NUDT7

Synonyms
-
External resources
Summary
The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple 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
10
Likely pathogenic
85
VUS
1,236
Likely benign
18
Benign
0

Patient phenotypes

Proportions of phenotypes among 95 patients carring pathogenic or likely pathogenic variants on NUDT7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.9%
Abnormality of the musculoskeletal system
32.6%
Abnormality of the eye
29.5%
Abnormality of head or neck
21.1%
Abnormality of the cardiovascular system
15.8%
Abnormality of the ear
11.6%
Abnormality of the integument
11.6%
Growth abnormality
10.5%
Abnormality of limbs
9.5%
Abnormality of the digestive system
8.4%
Abnormality of the genitourinary system
8.4%
Abnormality of prenatal development or birth
4.2%
Abnormality of the endocrine system
3.2%
Abnormality of the immune system
3.2%
Constitutional symptom
2.1%
Abnormality of the breast
1.1%
Abnormality of the respiratory system
1.1%
Neoplasm
1.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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