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NUDT9

Synonyms
NUDT10
External resources
Summary
The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. 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
9
Likely pathogenic
0
VUS
2,450
Likely benign
1
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on NUDT9 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
22.2%
Abnormality of head or neck
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the ear
11.1%
Abnormality of the endocrine system
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the immune system
11.1%
Abnormality of the musculoskeletal system
11.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the nervous system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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