Variant (rsID / SNP)
rs121918464
rs121918464 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,888,210. 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
- 12:112888210
- Cytoband
- 12q24.13
- HGVS
- NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)
- Allele change
- Missense_E76K
Associated conditions / phenotypes
Juvenile myelomonocytic leukemia|RASopathy|Multiple myeloma|Astrocytoma|Squamous cell lung carcinoma|Noonan syndrome|Neoplasm of the large intestine|Neuroblastoma|Malignant neoplastic disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.