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Variant (rsID / SNP)

rs138363524

SLC19A3

rs138363524 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC19A3. Location: chromosome 2, position 228,564,032. 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
2:228564032
Cytoband
2q36.3
HGVS
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=)
Allele change
Synonymous_P133P

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.