Variant (rsID / SNP)

rs6347

rs6347 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A3. Location: chromosome 5, position 1,411,412. Clinical significance in the table: Benign.

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Reference-table entries

SLC6A3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:1411412
Cytoband: 5p15.33
HGVS: NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=)
Allele change: Synonymous_S405S

Associated conditions / phenotypes

Parkinsonism-dystonia, infantile, 1|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.