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CHMP5

Synonyms
C9orf83, CGI-34, HSPC177, PNAS-2, SNF7DC2, Vps60
External resources
Summary
CHMP5 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
0
Likely pathogenic
0
VUS
4,166
Likely benign
363
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CHMP5 gene.

Phenotype class
Patients in 3billion (%)

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