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NCL

Synonyms
C23, Nsr1
External resources
Summary
Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar regions of the nucleolus. Human NCL gene consists of 14 exons with 13 introns and spans approximately 11kb. The intron 11 of the NCL gene encodes a small nucleolar RNA, termed U20.

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
4
Likely pathogenic
46
VUS
3,773
Likely benign
3,134
Benign
0

Patient phenotypes

Proportions of phenotypes among 25 patients carrying pathogenic or likely pathogenic variants on NCL gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
72%
Abnormality of the musculoskeletal system
44%
Abnormality of head or neck
32%
Abnormality of the cardiovascular system
28%
Growth abnormality
28%
Abnormality of the eye
24%
Abnormality of the integument
24%
Abnormality of limbs
16%
Abnormality of the digestive system
16%
Abnormality of the genitourinary system
12%
Abnormality of blood and blood-forming tissues
8%
Abnormality of the ear
8%
Abnormality of the endocrine system
8%
Abnormality of the immune system
8%
Abnormality of the respiratory system
8%
Neoplasm
8%
Abnormal cellular phenotype
4%
Abnormality of prenatal development or birth
4%
Abnormality of the breast
4%
Constitutional symptom
4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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