Variant (rsID / SNP)

rs142861804

rs142861804 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A22. Location: chromosome 11, position 792,341. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC25A22Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:792341
Cytoband: 11p15.5
HGVS: NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=)
Allele change: Synonymous_A235A

Associated conditions / phenotypes

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

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.