Variant (rsID / SNP)
rs121918549
rs121918549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AAAS. Location: chromosome 12, position 53,715,207. Clinical significance in the table: Pathogenic.
Reference-table entries
AAASPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:53715207
- Cytoband
- 12q13.13
- HGVS
- NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)
- Allele change
- Missense_Q15K
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.