Home > Gene Browser > CD300C

CD300C

Synonyms
CLM-6, CMRF-35, CMRF-35A, CMRF35, CMRF35-A1, CMRF35A, CMRF35A1, IGSF16, LIR
External resources
Summary
The CMRF35 antigen, which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes (Jackson et al., 1992

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
3
Likely pathogenic
175
VUS
439
Likely benign
153
Benign
0

Patient phenotypes

Proportions of phenotypes among 178 patients carring pathogenic or likely pathogenic variants on CD300C gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.6%
Abnormality of the musculoskeletal system
30.9%
Abnormality of head or neck
21.9%
Abnormality of the eye
18.5%
Abnormality of the ear
15.7%
Growth abnormality
12.9%
Abnormality of the cardiovascular system
12.4%
Abnormality of the integument
10.7%
Abnormality of limbs
9.6%
Abnormality of the genitourinary system
7.3%
Abnormality of the immune system
6.2%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of the endocrine system
4.5%
Abnormality of the respiratory system
4.5%
Constitutional symptom
4.5%
Abnormality of the digestive system
3.4%
Neoplasm
2.2%
Abnormality of prenatal development or birth
1.1%
Abnormality of the breast
1.1%
Abnormal cellular phenotype
0.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes