Variant (rsID / SNP)

rs189540672

rs189540672 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC19A3. Location: chromosome 2, position 228,563,517. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC19A3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:228563517
Cytoband: 2q36.3
HGVS: NM_025243.4(SLC19A3):c.914A>G (p.Tyr305Cys)
Allele change: Missense_Y305C

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.