Variant (rsID / SNP)
rs121918453
rs121918453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,888,198. Clinical significance in the table: Pathogenic.
Reference-table entries
PTPN11Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:112888198
- Cytoband
- 12q24.13
- HGVS
- NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)
- Allele change
- Missense_A72S
Associated conditions / phenotypes
Noonan syndrome 1|RASopathy|Noonan syndrome|LEOPARD syndrome 1|Noonan syndrome 1|Metachondromatosis|Juvenile myelomonocytic leukemia|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.