Variant (rsID / SNP)
rs786200991
rs786200991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STK11. Location: chromosome 19, position 1,223,049. Clinical significance in the table: Pathogenic.
Reference-table entries
STK11Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 19:1223049
- Cytoband
- 19p13.3
- HGVS
- NM_000455.5(STK11):c.988dup (p.Asp330fs)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.