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Variant (rsID / SNP)

rs541069522

PGM1

rs541069522 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGM1. Location: chromosome 1, position 64,102,070. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PGM1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:64102070
Cytoband
1p31.3
HGVS
NM_002633.3(PGM1):c.1028+11C>A
Allele change
Silent

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.