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Variant (rsID / SNP)

rs138097673

GAA

rs138097673 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAA. Location: chromosome 17, position 78,081,657. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GAAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:78081657
Cytoband
17q25.3
HGVS
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
Allele change
Missense_S306L

Associated conditions / phenotypes

Glycogen storage disease, type II

Public references

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