Variant (rsID / SNP)

rs773770609

rs773770609 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC13A5. Location: chromosome 17, position 6,599,103. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC13A5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:6599103
Cytoband: 17p13.1
HGVS: NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)
Allele change: Nonsense_R333X

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 25|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.