Variant (rsID / SNP)
rs766867890
rs766867890 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASL. Location: chromosome 7, position 65,541,038. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ASLConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:65541038
- Cytoband
- 7q11.21
- HGVS
- NM_000048.4(ASL):c.-31G>A
- Allele change
- Silent
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.