Variant (rsID / SNP)
rs794729664
rs794729664 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,711,927. 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
- 10:89711927
- Cytoband
- 10q23.31
- HGVS
- NM_000314.8(PTEN):c.545T>C (p.Leu182Ser)
- Allele change
- Missense_L355S
Associated conditions / phenotypes
Macrocephaly-autism syndrome|PTEN hamartoma tumor syndrome|Cowden syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.