Variant (rsID / SNP)
rs141007881
rs141007881 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGM1. Location: chromosome 1, position 64,095,623. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PGM1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:64095623
- Cytoband
- 1p31.3
- HGVS
- NM_002633.3(PGM1):c.420A>G (p.Pro140=)
- Allele change
- Synonymous_P140P
Associated conditions / phenotypes
PGM1-congenital disorder of glycosylation|Congenital disorder of glycosylation
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.