Variant (rsID / SNP)

rs138203039

rs138203039 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGL. Location: chromosome 1, position 100,316,637. 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: 1:100316637
Cytoband: 1p21.2
HGVS: NM_000642.3(AGL):c.39C>T (p.Asn13=)
Allele change: Synonymous_N13N

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.