Variant (rsID / SNP)

rs150004962

rs150004962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NAGS. Location: chromosome 17, position 42,084,992. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NAGSConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:42084992
Cytoband: 17q21.31
HGVS: NM_153006.3(NAGS):c.1302C>T (p.Pro434=)
Allele change: Synonymous_P434P

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.