rs80338775

This is a coding sequence variant variant in the SARM1 gene.

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ClinVar annotation

Pathogenic★★★☆
8 submitters8 publications

Congenital defect of folate absorption; Inborn genetic diseases; SLC46A1-related disorder

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About SARM1

Enables NAD+ nucleosidase activity; NAD+ nucleosidase activity, cyclic ADP-ribose generating; and identical protein binding activity. Involved in NAD catabolic process and response to axon injury. Is active in mitochondrion. [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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