Variant (rsID / SNP)

rs786204867

rs786204867 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,711,981. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PTENUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:89711981
Cytoband: 10q23.31
HGVS: NM_000314.8(PTEN):c.599T>C (p.Phe200Ser)
Allele change: Missense_F373S

Associated conditions / phenotypes

PTEN hamartoma tumor 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.