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LARP1B

Synonyms
LARP2
External resources
Summary
This gene encodes a protein containing domains found in the La related protein of Drosophila melanogaster. La motif-containing proteins are thought to be RNA-binding proteins, where the La motif and adjacent amino acids fold into an RNA recognition motif. The La motif is also found in proteins unrelated to the La protein. Alternative splicing has been observed at this locus and multiple variants, encoding distinct isoforms, are described. Additional splice variation has been identified but the full-length nature of these transcripts has not been determined.

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
37
Likely pathogenic
94
VUS
7,510
Likely benign
1,795
Benign
0

Patient phenotypes

Proportions of phenotypes among 130 patients carring pathogenic or likely pathogenic variants on LARP1B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.8%
Abnormality of the eye
37.7%
Abnormality of the musculoskeletal system
30.8%
Abnormality of head or neck
23.8%
Abnormality of the integument
15.4%
Abnormality of the ear
14.6%
Abnormality of limbs
11.5%
Growth abnormality
10%
Abnormality of the cardiovascular system
8.5%
Abnormality of the digestive system
6.9%
Abnormality of the genitourinary system
6.2%
Abnormality of the immune system
5.4%
Abnormality of blood and blood-forming tissues
3.8%
Abnormal cellular phenotype
2.3%
Abnormality of the respiratory system
2.3%
Neoplasm
2.3%
Abnormality of prenatal development or birth
1.5%
Abnormality of the endocrine system
1.5%
Constitutional symptom
1.5%
Abnormality of the breast
0.8%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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