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CHIC1

Synonyms
BRX
External resources
Summary
This gene encodes a cysteine-rich hydrophobic (CHIC) domain-containing protein, and is one of the few protein-coding genes found near the X-inactivation center. Studies in mouse indicate that the mouse ortholog of this gene is subject to X-inactivation in mouse. Experiments with other CHIC domain-containing family members show that the cysteine residues are palmitoylated post-translationally, resulting in membrane association. Alternative splicing results in multiple transcript variants encoding different isoforms.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
368
Likely benign
111
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CHIC1 gene.

Phenotype class
Patients in 3billion (%)

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