Variant (rsID / SNP)

rs143238917

rs143238917 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,926,829. Clinical significance in the table: Likely benign.

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Reference-table entries

PTPN11Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:112926829
Cytoband: 12q24.13
HGVS: NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
Allele change: Synonymous_G483G

Associated conditions / phenotypes

Noonan syndrome 1|Metachondromatosis|LEOPARD syndrome 1|Cardiovascular phenotype|RASopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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