Variant (rsID / SNP)
rs28941472
rs28941472 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASL. Location: chromosome 7, position 65,554,101. Clinical significance in the table: Pathogenic.
Reference-table entries
ASLPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:65554101
- Cytoband
- 7q11.21
- HGVS
- NM_000048.4(ASL):c.857A>G (p.Gln286Arg)
- Allele change
- Missense_Q286R
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.