rs769259446
This is a variant in the SGPL1 gene that changes a arginine to an glutamine.
▶ClinVar annotation
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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