rs1193330730

This variant is located in the NAGA gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Alpha-N-acetylgalactosaminidase deficiency type 1

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About NAGA

NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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