rs121918137

This is a variant in the RNASET2 gene that changes a cysteine to an arginine.

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ClinVar annotation

Pathogenic
2 submitters2 publications

Cystic leukoencephalopathy without megalencephaly

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About RNASET2

This ribonuclease gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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