Variant (rsID / SNP)
rs369879957
rs369879957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASL. Location: chromosome 7, position 65,552,367. Clinical significance in the table: Pathogenic.
Reference-table entries
ASLPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:65552367
- Cytoband
- 7q11.21
- HGVS
- NM_000048.4(ASL):c.649C>T (p.Arg217Ter)
- Allele change
- Nonsense_R217X
Associated conditions / phenotypes
Argininosuccinate lyase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.