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ALLC

Synonyms
ALC
External resources
Summary
Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.

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
33
Likely pathogenic
0
VUS
1,912
Likely benign
48
Benign
0

Patient phenotypes

Proportions of phenotypes among 33 patients carring pathogenic or likely pathogenic variants on ALLC gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
42.4%
Abnormality of the nervous system
39.4%
Abnormality of head or neck
33.3%
Growth abnormality
24.2%
Abnormality of limbs
18.2%
Abnormality of the ear
12.1%
Abnormality of the genitourinary system
12.1%
Abnormality of the eye
9.1%
Abnormality of the immune system
9.1%
Abnormality of the integument
9.1%
Abnormality of the breast
6.1%
Abnormality of the cardiovascular system
6.1%
Abnormality of the endocrine system
6.1%
Abnormality of the respiratory system
6.1%
Abnormal cellular phenotype
3%
Abnormality of blood and blood-forming tissues
3%
Abnormality of the digestive system
3%
Abnormality of the voice
3%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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