Variant (rsID / SNP)

rs1057520622

rs1057520622 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,692,946. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PTENPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:89692946
Cytoband: 10q23.31
HGVS: NM_000314.8(PTEN):c.430A>T (p.Lys144Ter)
Allele change: Nonsense_K317X

Associated conditions / phenotypes

PTEN hamartoma tumor syndrome|Cowden 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.