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NRAP

Synonyms
N-RAP
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
76
Likely pathogenic
0
VUS
17,183
Likely benign
13,578
Benign
854

Patient phenotypes

Proportions of phenotypes among 76 patients carrying pathogenic or likely pathogenic variants on NRAP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.7%
Abnormality of head or neck
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the eye
23.7%
Abnormality of the cardiovascular system
18.4%
Abnormality of the ear
17.1%
Growth abnormality
14.5%
Abnormality of the genitourinary system
13.2%
Abnormality of limbs
11.8%
Abnormality of the integument
9.2%
Abnormality of the endocrine system
7.9%
Abnormality of the digestive system
6.6%
Abnormality of the immune system
6.6%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of prenatal development or birth
3.9%
Abnormality of the respiratory system
3.9%
Neoplasm
2.6%
Constitutional symptom
1.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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