Variant (rsID / SNP)

rs864622341

rs864622341 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,711,903. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PTENLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:89711903
Cytoband: 10q23.31
HGVS: NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys)
Allele change: Missense_Y347C

Associated conditions / phenotypes

PTEN hamartoma tumor syndrome|Hereditary cancer-predisposing 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.