rs1234289517

This variant is located in the SAMD8 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About SAMD8

Predicted to enable ceramide cholinephosphotransferase activity and sphingomyelin synthase activity. Involved in ceramide biosynthetic process and regulation of ceramide biosynthetic process. Located in cytosol and endoplasmic reticulum membrane. [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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