Variant (rsID / SNP)

rs200324278

rs200324278 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENO3. Location: chromosome 17, position 4,858,479. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ENO3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:4858479
Cytoband: 17p13.2
HGVS: NM_053013.4(ENO3):c.554G>T (p.Gly185Val)
Allele change: Missense_G185V

Associated conditions / phenotypes

Glycogen storage disease due to muscle beta-enolase deficiency

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.