rs142055515

This variant is located in the MRI1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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