rs1404234630

This variant is located in the SGPL1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

not provided; Inborn genetic diseases

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About SGPL1

Enables sphinganine-1-phosphate aldolase activity. Involved in apoptotic signaling pathway; fatty acid metabolic process; and sphingolipid metabolic process. Located in endoplasmic reticulum. Implicated in nephrotic syndrome type 14. [provided by Alliance of Genome Resources, Jul 2025]

View all SGPL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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