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Variant (rsID / SNP)

rs730880328

PTPN11

rs730880328 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,943,646. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PTPN11Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:112943646
Cytoband
12q24.13
HGVS
NM_002834.5(PTPN11):c.*50C>T
Allele change
Silent

Associated conditions / phenotypes

Metachondromatosis|Noonan syndrome 1|LEOPARD syndrome 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.