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NCAM1

Synonyms
CD56, MSK39, NCAM
External resources
Summary
This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein has been shown to be involved in development of the nervous system, and for cells involved in the expansion of T cells and dendritic cells which play an important role in immune surveillance. Alternative splicing results in multiple transcript variants.

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
97
Likely pathogenic
211
VUS
11,021
Likely benign
655
Benign
0

Patient phenotypes

Proportions of phenotypes among 307 patients carring pathogenic or likely pathogenic variants on NCAM1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.4%
Abnormality of the eye
33.9%
Abnormality of the musculoskeletal system
27.4%
Abnormality of head or neck
21.2%
Abnormality of the ear
16.3%
Abnormality of the integument
14.7%
Abnormality of the cardiovascular system
11.7%
Abnormality of the genitourinary system
11.7%
Growth abnormality
11.1%
Abnormality of limbs
10.4%
Abnormality of the digestive system
7.5%
Abnormality of the immune system
5.5%
Abnormality of the respiratory system
4.9%
Abnormality of blood and blood-forming tissues
4.2%
Abnormality of the endocrine system
3.3%
Abnormality of prenatal development or birth
2%
Constitutional symptom
1.3%
Abnormality of the voice
1%
Neoplasm
1%
Abnormality of the breast
0.7%
Abnormal cellular phenotype
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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