Variant (rsID / SNP)

rs121434533

rs121434533 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NAGA. Location: chromosome 22, position 42,457,043. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NAGAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:42457043
Cytoband: 22q13.2
HGVS: NM_000262.3(NAGA):c.986G>A (p.Arg329Gln)
Allele change: Missense_R329Q

Associated conditions / phenotypes

Alpha-N-acetylgalactosaminidase deficiency type 2|NAGA-Related Disorders

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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