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Variant (rsID / SNP)

rs146349901

SPR

rs146349901 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPR. Location: chromosome 2, position 73,115,507. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:73115507
Cytoband
2p13.2
HGVS
NM_003124.5(SPR):c.369C>T (p.Tyr123=)
Allele change
Synonymous_Y123Y

Associated conditions / phenotypes

Dopa-responsive dystonia due to sepiapterin reductase deficiency|Dystonic disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.