rs121434530

This is a variant in the NAGA gene that changes a arginine to an tryptophan.

▶

ClinVar annotation

Pathogenic★☆☆☆
2 submitters2 publications

Alpha-N-acetylgalactosaminidase deficiency; Alpha-N-acetylgalactosaminidase deficiency type 2

View on ClinVar →

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]

View all NAGA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…