Home > Gene Browser > CHMP4A

CHMP4A

Synonyms
C14orf123, CHMP4, CHMP4B, HSPC134, SHAX2, SNF7, SNF7-1, VPS32-1, VPS32A
External resources
Summary
CHMP4A 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
17
Likely pathogenic
0
VUS
7,563
Likely benign
487
Benign
0

Patient phenotypes

Proportions of phenotypes among 17 patients carring pathogenic or likely pathogenic variants on CHMP4A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
29.4%
Abnormality of the eye
23.5%
Abnormality of the musculoskeletal system
23.5%
Abnormality of the nervous system
23.5%
Growth abnormality
23.5%
Abnormality of blood and blood-forming tissues
17.6%
Abnormality of the cardiovascular system
11.8%
Abnormality of the digestive system
11.8%
Abnormality of the genitourinary system
11.8%
Abnormality of the immune system
11.8%
Abnormality of the integument
11.8%
Abnormality of limbs
5.9%
Constitutional symptom
5.9%
Abnormal cellular phenotype
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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