Variant (rsID / SNP)
rs80027466
rs80027466 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AAAS. Location: chromosome 12, position 53,708,092. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
AAASConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:53708092
- Cytoband
- 12q13.13
- HGVS
- NM_015665.6(AAAS):c.679T>C (p.Leu227=)
- Allele change
- Synonymous_L194L
Associated conditions / phenotypes
Glucocorticoid deficiency with achalasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.