Variant (rsID / SNP)

rs577802449

rs577802449 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A3. Location: chromosome 5, position 1,414,895. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC6A3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:1414895
Cytoband: 5p15.33
HGVS: NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met)
Allele change: Missense_T356M

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.