Variant (rsID / SNP)
rs2269248
rs2269248 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGM1. Location: chromosome 1, position 64,102,114. Clinical significance in the table: Benign.
Reference-table entries
PGM1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:64102114
- Cytoband
- 1p31.3
- HGVS
- NM_002633.3(PGM1):c.1028+55A>G
- Allele change
- Silent
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.