Variant (rsID / SNP)
rs121918456
rs121918456 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,910,827. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
PTPN11Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:112910827
- Cytoband
- 12q24.13
- HGVS
- NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
- Allele change
- Missense_Y279C
Associated conditions / phenotypes
Noonan syndrome with multiple lentigines|RASopathy|LEOPARD syndrome 1|CBL-related disorder|Noonan syndrome 1|Cardiovascular phenotype|Metachondromatosis|Juvenile myelomonocytic leukemia|LEOPARD syndrome 1|Noonan syndrome 1|Noonan syndrome with multiple lentigines|Noonan 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.