rs80338773

This is a variant in the SARM1 gene that changes a arginine to an tryptophan.

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ClinVar annotation

Pathogenic

3 submitters2 publications

Congenital defect of folate absorption

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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