Variant (rsID / SNP)

rs143945974

rs143945974 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENO3. Location: chromosome 17, position 4,856,390. Clinical significance in the table: Benign.

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Reference-table entries

ENO3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:4856390
Cytoband: 17p13.2
HGVS: NM_053013.4(ENO3):c.226G>C (p.Ala76Pro)
Allele change: Missense_A76P

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.