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Variant (rsID / SNP)

rs17853011

SLC19A3

rs17853011 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC19A3. Location: chromosome 2, position 228,566,936. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC19A3Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:228566936
Cytoband
2q36.3
HGVS
NM_025243.4(SLC19A3):c.99A>G (p.Pro33=)
Allele change
Synonymous_P33P

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.