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Variant (rsID / SNP)

rs121434532

NAGA

rs121434532 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NAGA. Location: chromosome 22, position 42,463,140. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NAGAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:42463140
Cytoband
22q13.2
HGVS
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
Allele change
Missense_S160C

Associated conditions / phenotypes

Schindler disease, type 3|Alpha-N-acetylgalactosaminidase deficiency type 1|Alpha-N-acetylgalactosaminidase deficiency type 2|Alpha-N-acetylgalactosaminidase deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.