rs113710653

This is a variant in the SPATC1L gene that changes a glutamate to an lysine.

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ClinVar annotation

Benign★★★☆

3 submitters2 publications

not specified

About SPATC1L

Enables identical protein binding activity. Predicted to be involved in spermatogenesis. Predicted to act upstream of or within actin polymerization or depolymerization; positive regulation of cAMP-dependent protein kinase activity; and positive regulation of cAMP/PKA signal transduction. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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