Variant (rsID / SNP)

rs201247699

rs201247699 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,924,280. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PTPN11Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:112924280
Cytoband: 12q24.13
HGVS: NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)
Allele change: Missense_G409A

Associated conditions / phenotypes

Neurofibroma|RASopathy|Noonan syndrome and Noonan-related syndrome

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.