Variant (rsID / SNP)

rs2228007

rs2228007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS2. Location: chromosome 7, position 6,026,865. Clinical significance in the table: Benign.

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Reference-table entries

PMS2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:6026865
Cytoband: 7p22.1
HGVS: NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)
Allele change: Missense_T320A

Associated conditions / phenotypes

Lynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 4|Hereditary nonpolyposis colorectal neoplasms|Endometrial carcinoma

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.