Variant (rsID / SNP)

rs397507512

rs397507512 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,888,195. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PTPN11Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:112888195
Cytoband: 12q24.13
HGVS: NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)
Allele change: Missense_F71L

Associated conditions / phenotypes

Noonan syndrome|Noonan syndrome 3|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.