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Variant (rsID / SNP)

rs149806390

SLC19A3

rs149806390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC19A3. Location: chromosome 2, position 228,560,721. 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
2:228560721
Cytoband
2q36.3
HGVS
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu)
Allele change
Missense_F352L

Associated conditions / phenotypes

Biotin-responsive basal ganglia disease

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.