Variant (rsID / SNP)

rs1145232

rs1145232 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS1. Location: chromosome 2, position 190,719,499. Clinical significance in the table: Benign.

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Reference-table entries

PMS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:190719499
Cytoband: 2q32.2
HGVS: NM_000534.5(PMS1):c.1501G>A (p.Gly501Arg)
Allele change: Missense_G325R

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.