rs139066649

This variant is located in the SGSH gene.

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ClinVar annotation

Likely Benign★★★☆

2 submitters

Mucopolysaccharidosis, MPS-III-A; not provided

About SGSH

This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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