rs1057519599

This is a stop gained variant in the YY1AP1 gene.

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ClinVar annotation

Pathogenic★☆☆☆

3 submitters2 publications

Grange syndrome (GRNG); YY1AP1-related disorder

About YY1AP1

Involved in cell differentiation; cell population proliferation; and regulation of cell cycle. Located in Ino80 complex; fibrillar center; and nucleoplasm. [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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