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Variant (rsID / SNP)

rs146300431

SLC25A22CEND1

rs146300431 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A22, CEND1. Location: chromosome 11, position 792,011. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC25A22Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:792011
Cytoband
11p15.5
HGVS
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)
Allele change
Synonymous_A292A

Associated conditions / phenotypes

Early myoclonic encephalopathy|Seizure|Early infantile epileptic encephalopathy with suppression bursts

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.