Variant (rsID / SNP)
rs397507540
rs397507540 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,926,852. 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
- 12:112926852
- Cytoband
- 12q24.13
- HGVS
- NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)
- Allele change
- Missense_P491H
Associated conditions / phenotypes
Noonan syndrome|RASopathy|Strabismus|Short stature|Abnormal facial shape
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.