Variant (rsID / SNP)

rs188532608

rs188532608 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC19A3. Location: chromosome 2, position 228,552,105. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC19A3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:228552105
Cytoband: 2q36.3
HGVS: NM_025243.4(SLC19A3):c.*8G>A
Allele change: Silent

Associated conditions / phenotypes

Biotin-responsive basal ganglia disease

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.