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LARP1

Synonyms
LARP, Lar1, Lhp1
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
6
Likely pathogenic
40
VUS
3,939
Likely benign
1,960
Benign
0

Patient phenotypes

Proportions of phenotypes among 46 patients carrying pathogenic or likely pathogenic variants on LARP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30.4%
Abnormality of the musculoskeletal system
19.6%
Abnormality of head or neck
10.9%
Abnormality of the eye
8.7%
Abnormality of blood and blood-forming tissues
6.5%
Growth abnormality
6.5%
Abnormality of the cardiovascular system
4.3%
Abnormality of the ear
4.3%
Abnormality of the genitourinary system
4.3%
Abnormality of the immune system
4.3%
Abnormality of limbs
2.2%
Abnormality of the digestive system
2.2%
Neoplasm
2.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
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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