Variant (rsID / SNP)
rs5742933
rs5742933 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PMS1. Location: chromosome 2, position 190,649,316. Clinical significance in the table: Benign.
Reference-table entries
PMS1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:190649316
- Cytoband
- 2q32.2
- HGVS
- NM_000534.5(PMS1):c.-24G>C
- Allele change
- Silent
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.