Home > Gene Browser > UTP20

UTP20

Synonyms
1A6/DRIM, DRIM
External resources
Summary
UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007

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
15
Likely pathogenic
0
VUS
17,915
Likely benign
1,797
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on UTP20 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
26.7%
Abnormality of the musculoskeletal system
26.7%
Abnormality of the cardiovascular system
20%
Abnormality of the nervous system
20%
Abnormality of limbs
13.3%
Abnormality of the genitourinary system
13.3%
Abnormality of the integument
13.3%
Abnormal cellular phenotype
6.7%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of head or neck
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the immune system
6.7%
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 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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