rs1085307446

This is a splice region variant variant in the CWC27 gene.

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ClinVar annotation

Pathogenic★☆☆☆

3 submitters5 publications

Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

About CWC27

Predicted to enable peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Located in nucleoplasm. Part of U2-type precatalytic spliceosome and catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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