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CHMP4C

Synonyms
SNF7-3, Shax3, VPS32C
External resources
Summary
CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006

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
11
Likely pathogenic
0
VUS
566
Likely benign
249
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on CHMP4C gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
45.5%
Abnormality of the eye
36.4%
Abnormality of the nervous system
36.4%
Abnormality of the musculoskeletal system
27.3%
Abnormality of blood and blood-forming tissues
18.2%
Abnormality of the ear
18.2%
Abnormality of the immune system
18.2%
Growth abnormality
18.2%
Abnormality of limbs
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the endocrine system
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the respiratory system
9.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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