Variant (rsID / SNP)

rs28730701

rs28730701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGL. Location: chromosome 1, position 100,340,782. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AGLBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:100340782
Cytoband: 1p21.2
HGVS: NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)
Allele change: Missense_K385N

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.