Variant (rsID / SNP)
rs104894190
rs104894190 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIP. Location: chromosome 11, position 67,258,382. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
AIPConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:67258382
- Cytoband
- 11q13.2
- HGVS
- NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
- Allele change
- Silent
Associated conditions / phenotypes
Pituitary dependent hypercortisolism|Somatotroph adenoma|Hereditary cancer-predisposing syndrome|Dopamine agonists response
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
