Variant (rsID / SNP)
rs28933386
rs28933386 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,915,523. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:112915523
- Cytoband
- 12q24.13
- HGVS
- NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
- Allele change
- Missense_N308D
Associated conditions / phenotypes
Noonan syndrome 1|RASopathy|Noonan syndrome|Metachondromatosis|Juvenile myelomonocytic leukemia|LEOPARD syndrome 1|Noonan syndrome 1|Cardiovascular phenotype|LEOPARD syndrome 1|Noonan syndrome 1|Inborn genetic diseases|Metachondromatosis|LEOPARD syndrome 1|Noonan syndrome 1|LEOPARD syndrome 1|Thrombocytopenia|Abnormal bleeding|Hereditary cancer-predisposing syndrome|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.