Variant (rsID / SNP)

rs121434396

rs121434396 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A12. Location: chromosome 2, position 172,644,147. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC25A12Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:172644147
Cytoband: 2q31.1
HGVS: NM_003705.5(SLC25A12):c.1769A>G (p.Gln590Arg)
Allele change: Missense_Q590R

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 39

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.