rs730882241

This is a variant in the ARV1 gene that changes a glycine to an arginine.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters3 publications

Abnormality of the nervous system; Blindness; Developmental and epileptic encephalopathy, 38 (DEE38); Neurodegeneration

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About ARV1

this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]

View all ARV1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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