Variant (rsID / SNP)

rs764930724

rs764930724 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A22. Location: chromosome 11, position 794,847. 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: 11:794847
Cytoband: 11p15.5
HGVS: NM_001191061.2(SLC25A22):c.75C>T (p.Cys25=)
Allele change: Synonymous_C25C

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.