Home > Gene Browser > ARIH1

ARIH1

Synonyms
ARI, HARI, HHARI, UBCH7BP
External resources
Summary
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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
14
Likely pathogenic
0
VUS
7,916
Likely benign
11,287
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on ARIH1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.9%
Abnormality of the cardiovascular system
28.6%
Abnormality of the eye
14.3%
Abnormality of the immune system
14.3%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of head or neck
7.1%
Abnormality of limbs
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the genitourinary system
7.1%
Abnormality of the musculoskeletal system
7.1%
Growth abnormality
7.1%
Neoplasm
7.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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