rs35094336

This variant is located in the CHMP4C gene.

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

About CHMP4C

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 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

View all CHMP4C variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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