Variant (rsID / SNP)
rs397507502
rs397507502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,884,197. Clinical significance in the table: Benign.
Reference-table entries
PTPN11Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:112884197
- Cytoband
- 12q24.13
- HGVS
- NM_002834.5(PTPN11):c.132C>A (p.Ser44=)
- Allele change
- Synonymous_S44S
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.