Variant (rsID / SNP)
rs187389813
rs187389813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,915,423. Clinical significance in the table: Benign.
Reference-table entries
PTPN11Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:112915423
- Cytoband
- 12q24.13
- HGVS
- NM_002834.5(PTPN11):c.854-32A>C
- Allele change
- Silent
Associated conditions / phenotypes
Noonan syndrome|RASopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.