Variant (rsID / SNP)

rs182042247

rs182042247 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC13A5. Location: chromosome 17, position 6,606,331. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC13A5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:6606331
Cytoband: 17p13.1
HGVS: NM_177550.5(SLC13A5):c.674C>T (p.Thr225Ile)
Allele change: Missense_T225I

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 25

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.