rs879010457

This variant is located in the GUSB gene.

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ClinVar annotation

Likely Benign★☆☆☆
2 submitters1 publication

Mucopolysaccharidosis type 7; Acute myeloid leukemia; Cervical cancer; Malignant tumor of esophagus; Familial cancer of breast; Ovarian serous cystadenocarcinoma

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About GUSB

This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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