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Variant (rsID / SNP)

rs138105395

AGL

rs138105395 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGL. Location: chromosome 1, position 100,346,262. 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
1:100346262
Cytoband
1p21.2
HGVS
NM_000642.3(AGL):c.1810T>G (p.Phe604Val)
Allele change
Missense_F604V

Associated conditions / phenotypes

Glycogen storage disease type III

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.