Variant (rsID / SNP)

rs201800868

rs201800868 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF1C. Location: chromosome 17, position 4,927,406. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KIF1CConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:4927406
Cytoband: 17p13.2
HGVS: NM_006612.6(KIF1C):c.3272G>A (p.Arg1091His)
Allele change: Missense_R1091H

Associated conditions / phenotypes

Spastic ataxia 2

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.