rs548527219

This is a stop gained variant in the PATL2 gene.

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ClinVar annotation

Pathogenic★☆☆☆

4 submitters5 publications

Oocyte maturation defect 2 (OZEMA2); Oocyte maturation defect 4

About PATL2

Predicted to enable RNA binding activity. Predicted to be involved in P-body assembly; deadenylation-dependent decapping of nuclear-transcribed mRNA; and negative regulation of translation. Predicted to act upstream of or within negative regulation of cytoplasmic mRNA processing body assembly. Located in cytoplasm. [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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