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LTN1

Synonyms
C21orf10, C21orf98, RNF160, ZNF294
External resources
Summary
Like most RING finger proteins, LTN1 functions as an E3 ubiquitin ligase (Chu et al., 2009

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
1,338
Likely pathogenic
537
VUS
7,776
Likely benign
11,730
Benign
0

Patient phenotypes

Proportions of phenotypes among 1867 patients carring pathogenic or likely pathogenic variants on LTN1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.9%
Abnormality of the eye
30.9%
Abnormality of the musculoskeletal system
29.5%
Abnormality of head or neck
22%
Abnormality of the cardiovascular system
18.2%
Abnormality of the ear
16.6%
Growth abnormality
12.5%
Abnormality of the integument
11.9%
Abnormality of limbs
9.9%
Abnormality of the genitourinary system
8.9%
Abnormality of the digestive system
7.2%
Abnormality of the immune system
6.3%
Abnormality of the endocrine system
3.8%
Abnormality of blood and blood-forming tissues
3.4%
Abnormality of the respiratory system
3.2%
Neoplasm
3.1%
Abnormality of prenatal development or birth
2.8%
Constitutional symptom
1.2%
Abnormal cellular phenotype
0.6%
Abnormality of the breast
0.6%
Abnormality of the voice
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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