Variant (rsID / SNP)
rs121909229
rs121909229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,692,905. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:89692905
- Cytoband
- 10q23.31
- HGVS
- NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
- Allele change
- Missense_R303Q
Associated conditions / phenotypes
Cowden syndrome 1|Hereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome|Prostate adenocarcinoma|Malignant melanoma of skin|Neoplasm|Neoplasm of the large intestine|Gastric adenocarcinoma|Neoplasm of uterine cervix|Malignant neoplasm of body of uterus|Uterine carcinosarcoma|Neoplasm of ovary|Breast neoplasm|Glioblastoma|Squamous cell lung carcinoma|Renal cell carcinoma, papillary, 1|Small cell lung carcinoma|Squamous cell carcinoma of the head and neck|Cowden syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.