Variant (rsID / SNP)

rs11703233

rs11703233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NAGA. Location: chromosome 22, position 42,454,587. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NAGABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:42454587
Cytoband: 22q13.2
HGVS: NM_000262.3(NAGA):c.*1696C>T
Allele change: Silent

Associated conditions / phenotypes

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

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.