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Variant (rsID / SNP)

rs186194682

KCND3

rs186194682 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCND3. Location: chromosome 1, position 112,318,898. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KCND3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:112318898
Cytoband
1p13.2
HGVS
NM_001378969.1(KCND3):c.1769G>A (p.Arg590His)
Allele change
Missense_R571H

Associated conditions / phenotypes

Spinocerebellar ataxia type 19/22

Public references

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