Variant (rsID / SNP)
rs797045066
rs797045066 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,725,060. Clinical significance in the table: Pathogenic.
Reference-table entries
PTENPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 10:89725060
- Cytoband
- 10q23.31
- HGVS
- NM_000314.8(PTEN):c.1048dup (p.Thr350fs)
Associated conditions / phenotypes
Macrocephaly-autism syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.