Variant (rsID / SNP)
rs201787206
rs201787206 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,915,526. Clinical significance in the table: Benign.
Reference-table entries
PTPN11Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:112915526
- Cytoband
- 12q24.13
- HGVS
- NM_002834.5(PTPN11):c.925A>G (p.Ile309Val)
- Allele change
- Missense_I309V
Associated conditions / phenotypes
Cardiovascular phenotype|RASopathy|Noonan syndrome|Metachondromatosis|LEOPARD syndrome 1|Noonan syndrome 1|Noonan syndrome and Noonan-related syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.