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LRRC14B

Synonyms
-
External resources
Summary
The protein encoded by this gene is a leucine-rich repeat containing protein that is a member of the PRAME family.

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
36
Likely pathogenic
0
VUS
1,230
Likely benign
5
Benign
0

Patient Phenotypes

Proportions of phenotypes among 36 patients carrying pathogenic or likely pathogenic variants on LRRC14B gene are displayed below. The following symptoms were found in patients with a variant in LRRC14B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.4%
Abnormality of the musculoskeletal system
36.1%
Abnormality of the eye
27.8%
Abnormality of head or neck
25%
Abnormality of the ear
25%
Growth abnormality
16.7%
Abnormality of the genitourinary system
13.9%
Abnormality of limbs
11.1%
Abnormality of the integument
11.1%
Abnormality of the cardiovascular system
5.6%
Abnormality of the endocrine system
5.6%
Abnormality of metabolism homeostasis
2.8%
Abnormality of the digestive system
2.8%
Abnormality of the immune system
2.8%
Abnormality of the respiratory system
2.8%
Abnormality of the voice
2.8%
Neoplasm
2.8%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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