Home > Gene Browser > CD300A

CD300A

Synonyms
CLM-8, CMRF-35-H9, CMRF-35H, CMRF35-H, CMRF35-H9, CMRF35H, CMRF35H9, IGSF12, IRC1, IRC1/IRC2, IRC2, IRp60
External resources
Summary
This gene encodes a member of the CD300 glycoprotein family of cell surface proteins found on leukocytes involved in immune response signaling pathways. This gene is located on chromosome 17 in a cluster with all but one of the other family members. Multiple transcript variants encoding different isoforms have been found for this gene.

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
2
Likely pathogenic
7
VUS
1,497
Likely benign
70
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on CD300A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
66.7%
Abnormality of the eye
55.6%
Abnormality of the nervous system
55.6%
Abnormality of head or neck
22.2%
Abnormality of limbs
22.2%
Growth abnormality
22.2%
Abnormality of the cardiovascular system
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the integument
11.1%
Abnormality of the respiratory system
11.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary 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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