Variant (rsID / SNP)

rs201629145

rs201629145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NAGS. Location: chromosome 17, position 42,084,873. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NAGSBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:42084873
Cytoband: 17q21.31
HGVS: NM_153006.3(NAGS):c.1268+11G>A
Allele change: Silent

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.