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LRRC39

Synonyms
-
External resources

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
12
Likely pathogenic
195
VUS
5,169
Likely benign
158
Benign
0

Patient phenotypes

Proportions of phenotypes among 206 patients carring pathogenic or likely pathogenic variants on LRRC39 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34%
Abnormality of the musculoskeletal system
24.3%
Abnormality of the cardiovascular system
20.4%
Abnormality of the ear
18.9%
Abnormality of the eye
18%
Abnormality of head or neck
17%
Growth abnormality
15%
Abnormality of the genitourinary system
11.2%
Abnormality of limbs
10.2%
Abnormality of the digestive system
8.7%
Abnormality of the integument
6.8%
Abnormality of the immune system
6.3%
Abnormality of blood and blood-forming tissues
4.4%
Abnormality of prenatal development or birth
4.4%
Abnormality of the endocrine system
3.4%
Abnormality of the respiratory system
3.4%
Neoplasm
1.9%
Abnormality of the breast
1%
Abnormal cellular phenotype
0.5%
Abnormality of the voice
0.5%
Constitutional symptom
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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