Variant (rsID / SNP)

rs11549260

rs11549260 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CIZ1. Location: chromosome 9, position 130,928,633. Clinical significance in the table: Benign.

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Reference-table entries

CIZ1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:130928633
Cytoband: 9q34.11
HGVS: NM_001131016.2(CIZ1):c.2540G>A (p.Arg847Gln)
Allele change: Missense_R847Q

Associated conditions / phenotypes

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.