Variant (rsID / SNP)

rs104893665

rs104893665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPR. Location: chromosome 2, position 73,115,586. Clinical significance in the table: Pathogenic.

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Reference-table entries

SPRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:73115586
Cytoband: 2p13.2
HGVS: NM_003124.5(SPR):c.448A>G (p.Arg150Gly)
Allele change: Missense_R150G

Associated conditions / phenotypes

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

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.