Variant (rsID / SNP)

rs61765314

rs61765314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGM1. Location: chromosome 1, position 64,125,383. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PGM1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:64125383
Cytoband: 1p31.3
HGVS: NM_002633.3(PGM1):c.*37G>A
Allele change: Silent

Associated conditions / phenotypes

Congenital disorder of glycosylation|PGM1-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.