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CHIC2

Synonyms
BTL
External resources
Summary
This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia.

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
243
Likely benign
171
Benign
415

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CHIC2 gene.

Phenotype class
Patients in 3billion (%)

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