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LGALS14

Synonyms
CLC2, PPL13
External resources
Summary
This gene is predominantly expressed in placenta. The encoded protein belongs to the galectin (galaptin/S-lectin) family. The members of galectin family contain one or two carbohydrate recognition domains, which can bind beta-galactoside. Two alternatively spliced transcript variants encoding distinct isoforms have been observed.

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
26
Likely pathogenic
0
VUS
513
Likely benign
0
Benign
0

Patient phenotypes

Proportions of phenotypes among 26 patients carring pathogenic or likely pathogenic variants on LGALS14 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
61.5%
Abnormality of the eye
38.5%
Abnormality of head or neck
34.6%
Abnormality of the musculoskeletal system
26.9%
Abnormality of the ear
19.2%
Abnormality of the integument
19.2%
Abnormality of the digestive system
15.4%
Abnormality of the genitourinary system
15.4%
Abnormality of limbs
11.5%
Growth abnormality
11.5%
Abnormality of blood and blood-forming tissues
3.8%
Abnormality of the cardiovascular system
3.8%
Abnormality of the respiratory system
3.8%
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 immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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