rs752134549

This is a variant in the RSRC2 gene that changes a arginine to an glutamine.

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ClinVar annotation

Pathogenic

1 submitter

Autistic behavior; Global developmental delay (DD); Myopia; Obesity; Seizure; Strabismus

Enables RNA binding activity. [provided by Alliance of Genome Resources, Jul 2025]

Gene information from NCBI Gene. Variant classifications from ClinVar.

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