Variant (rsID / SNP)

rs146099322

rs146099322 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPR. Location: chromosome 2, position 73,114,673. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SPRBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:73114673
Cytoband: 2p13.2
HGVS: NM_003124.5(SPR):c.112G>A (p.Val38Ile)
Allele change: Missense_V38I

Associated conditions / phenotypes

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

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.