Variant (rsID / SNP)

rs879255373

rs879255373 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EEF1A2. Location: chromosome 20, position 62,119,660. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EEF1A2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Microsatellite
Chromosome / position: 20:62119660
Cytoband: 20q13.33
HGVS: NM_001958.5(EEF1A2):c.1366CAGAAGGCG[1] (p.456QKA[1])

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 33

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.