Variant (rsID / SNP)

rs397507511

rs397507511 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,888,189. Clinical significance in the table: Pathogenic.

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Reference-table entries

PTPN11Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:112888189
Cytoband: 12q24.13
HGVS: NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln)
Allele change: Missense_E69Q

Associated conditions / phenotypes

RASopathy|Noonan 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.