Variant (rsID / SNP)
rs267606989
rs267606989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,891,078. Clinical significance in the table: Pathogenic.
Reference-table entries
PTPN11Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:112891078
- Cytoband
- 12q24.13
- HGVS
- NM_002834.5(PTPN11):c.412C>T (p.Arg138Ter)
- Allele change
- Nonsense_R138X
Associated conditions / phenotypes
Metachondromatosis|RASopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.