Variant (rsID / SNP)
rs374896287
rs374896287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,939,998. Clinical significance in the table: Benign.
Reference-table entries
PTPN11Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:112939998
- Cytoband
- 12q24.13
- HGVS
- NM_002834.5(PTPN11):c.1650G>A (p.Ala550_Asp551=)
- Allele change
- Synonymous_A550A
Associated conditions / phenotypes
Cardiovascular phenotype|Metachondromatosis|Noonan syndrome 1|LEOPARD syndrome 1|RASopathy|History of neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.