Variant (rsID / SNP)

rs1057519368

rs1057519368 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,717,715. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

PTENLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:89717715
Cytoband: 10q23.31
HGVS: NM_000314.8(PTEN):c.740T>C (p.Leu247Ser)
Allele change: Missense_L420S

Associated conditions / phenotypes

Macrocephaly-autism syndrome|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.