Variant (rsID / SNP)
rs121918457
rs121918457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,926,270. Clinical significance in the table: Pathogenic.
Reference-table entries
PTPN11Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:112926270
- Cytoband
- 12q24.13
- HGVS
- NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
- Allele change
- Missense_T468M
Associated conditions / phenotypes
RASopathy|LEOPARD syndrome 1|Noonan syndrome 1|Noonan syndrome|Noonan syndrome with multiple lentigines|Inborn genetic diseases|Metachondromatosis|Juvenile myelomonocytic leukemia|LEOPARD syndrome 1|Noonan syndrome 1|PTPN11-related disorder|Hypertrophic cardiomyopathy|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.