Variant (rsID / SNP)
rs770025422
rs770025422 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,717,673. Clinical significance in the table: Uncertain significance.
Reference-table entries
PTENUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:89717673
- Cytoband
- 10q23.31
- HGVS
- NM_000314.8(PTEN):c.698G>A (p.Arg233Gln)
- Allele change
- Missense_R406Q
Associated conditions / phenotypes
Transitional cell carcinoma of the bladder|Malignant neoplasm of body of uterus|Glioblastoma|Neoplasm of the large intestine|Neoplasm of uterine cervix|Uterine carcinosarcoma|Prostate adenocarcinoma|Hereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome|Gastric adenocarcinoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
