Variant (rsID / SNP)
rs367543005
rs367543005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASL. Location: chromosome 7, position 65,554,680. Clinical significance in the table: Pathogenic.
Reference-table entries
ASLPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:65554680
- Cytoband
- 7q11.21
- HGVS
- NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)
- Allele change
- Nonsense_Q354X
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.