Variant (rsID / SNP)

rs199634498

rs199634498 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA2D2. Location: chromosome 3, position 50,418,453. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CACNA2D2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:50418453
Cytoband: 3p21.31
HGVS: NM_006030.4(CACNA2D2):c.757G>A (p.Ala253Thr)
Allele change: Missense_A253T

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts

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.