Variant (rsID / SNP)

rs115282473

rs115282473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A3. Location: chromosome 5, position 1,414,844. Clinical significance in the table: Likely benign.

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Reference-table entries

SLC6A3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:1414844
Cytoband: 5p15.33
HGVS: NM_001044.5(SLC6A3):c.1118A>G (p.Gln373Arg)
Allele change: Missense_Q373R

Associated conditions / phenotypes

Parkinsonism-dystonia, infantile

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.