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UQCC1

Synonyms
BFZB, C20orf44, CBP3, UQCC
External resources
Summary
This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants.

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
1,358
Likely benign
1,288
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on UQCC1 gene.

Phenotype class
Patients in 3billion (%)

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