Variant (rsID / SNP)
rs145807501
rs145807501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGM1. Location: chromosome 1, position 64,101,931. 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
- 1:64101931
- Cytoband
- 1p31.3
- HGVS
- NM_002633.3(PGM1):c.900T>C (p.His300=)
- Allele change
- Synonymous_H300H
Associated conditions / phenotypes
Congenital disorder of glycosylation|PGM1-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.