Variant (rsID / SNP)

rs200237046

rs200237046 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGM1. Location: chromosome 1, position 64,100,525. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PGM1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:64100525
Cytoband: 1p31.3
HGVS: NM_002633.3(PGM1):c.708C>G (p.Ile236Met)
Allele change: Missense_I236M

Associated conditions / phenotypes

PGM1-congenital disorder of glycosylation|Congenital disorder of glycosylation

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.