Variant (rsID / SNP)

rs121907943

rs121907943 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAA. Location: chromosome 17, position 78,092,070. Clinical significance in the table: Pathogenic.

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Reference-table entries

GAAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:78092070
Cytoband: 17q25.3
HGVS: NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
Allele change: Nonsense_R854X

Associated conditions / phenotypes

Glycogen storage disease, type II|See cases

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.