Variant (rsID / SNP)

rs104894606

rs104894606 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NAGS. Location: chromosome 17, position 42,085,140. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NAGSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:42085140
Cytoband: 17q21.31
HGVS: NM_153006.3(NAGS):c.1450T>C (p.Trp484Arg)
Allele change: Missense_W484R

Associated conditions / phenotypes

Hyperammonemia, type III

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.