rs141094096
This is a variant in the MRI1 gene that changes a arginine to an glutamine.
▶ClinVar annotation
Infantile epilepsy; Severe cystic degeneration of the brain; not specified
View on ClinVar →About MRI1
This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein is associated with metastatic melanoma and this protein promotes melanoma cell invasion independent of its enzymatic activity. Mutations in this gene may be associated with vanishing white matter disease (VMWD). [provided by RefSeq, Jul 2016]
View all MRI1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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