Variant (rsID / SNP)
rs367543006
rs367543006 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASL. Location: chromosome 7, position 65,547,921. The table records no clinical significance for this variant.
Reference-table entries
ASLNot classified
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:65547921
- Cytoband
- 7q11.21
- HGVS
- NM_000048.4(ASL):c.346C>T (p.Gln116Ter)
- Allele change
- Nonsense_Q116X
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.