Variant (rsID / SNP)
rs727503379
rs727503379 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAR1A. Location: chromosome 17, position 66,521,967. Clinical significance in the table: Pathogenic.
Reference-table entries
PRKAR1APathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 17:66521967
- Cytoband
- 17q24.2
- HGVS
- NM_002734.5(PRKAR1A):c.623del (p.Gly208fs)
Associated conditions / phenotypes
Carney complex|Carney complex, type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.