Variant (rsID / SNP)

rs115702388

rs115702388 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC1A3. Location: chromosome 5, position 36,680,556. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC1A3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:36680556
Cytoband: 5p13.2
HGVS: NM_004172.5(SLC1A3):c.1154G>A (p.Arg385His)
Allele change: Missense_R273H

Associated conditions / phenotypes

Episodic ataxia type 6|Spastic ataxia

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.