rs11596997

This variant is located in the SGPL1 gene.

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ClinVar annotation

Benign★☆☆☆
2 submitters

not provided; Lung cancer; Uterine corpus endometrial carcinoma; Sarcoma; Acute myeloid leukemia; Malignant tumor of esophagus

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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