Variant (rsID / SNP)

rs146749153

rs146749153 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,890,996. 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: 12:112890996
Cytoband: 12q24.13
HGVS: NM_002834.5(PTPN11):c.333-3T>C
Allele change: Silent

Associated conditions / phenotypes

RASopathy|History of neurodevelopmental disorder

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.