rs72830093

This variant is located in the SPNS2 gene.

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ClinVar annotation

Benign
2 submitters

SPNS2-related disorder; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Colorectal cancer; Gastric cancer; Thymoma; Acute myeloid leukemia; Malignant tumor of esophagus; Lung cancer; Cervical cancer; Sarcoma; Ovarian serous cystadenocarcinoma

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About SPNS2

The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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