Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs121434529

NAGA

rs121434529 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NAGA. Location: chromosome 22, position 42,457,056. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

NAGAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:42457056
Cytoband
22q13.2
HGVS
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
Allele change
Missense_E325K

Associated conditions / phenotypes

Alpha-N-acetylgalactosaminidase deficiency type 1|Alpha-N-acetylgalactosaminidase deficiency|Alpha-N-acetylgalactosaminidase deficiency type 1|Alpha-N-acetylgalactosaminidase deficiency type 2|Alpha-N-acetylgalactosaminidase deficiency type 2|See cases

Public references

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