Variant (rsID / SNP)

rs141043166

rs141043166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGL. Location: chromosome 1, position 100,343,254. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AGLConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:100343254
Cytoband: 1p21.2
HGVS: NM_000642.3(AGL):c.1481G>A (p.Arg494His)
Allele change: Missense_R494H

Associated conditions / phenotypes

Glycogen storage disease type III

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.