Variant (rsID / SNP)

rs200202628

rs200202628 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAA. Location: chromosome 17, position 78,078,582. 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: 17:78078582
Cytoband: 17q25.3
HGVS: NM_000152.5(GAA):c.197G>A (p.Arg66Gln)
Allele change: Missense_R66Q

Associated conditions / phenotypes

Glycogen storage disease, type II|Cardiomyopathy

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.