rs80338774

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

▶

ClinVar annotation

Pathogenic★☆☆☆

3 submitters4 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]

View all SARM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…