Variant (rsID / SNP)
rs121918462
rs121918462 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,888,202. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PTPN11Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:112888202
- Cytoband
- 12q24.13
- HGVS
- NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)
- Allele change
- Missense_T73I
Associated conditions / phenotypes
Noonan syndrome 1|RASopathy|Noonan syndrome|Juvenile myelomonocytic leukemia|Metachondromatosis|Noonan syndrome 1|LEOPARD 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.