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Variant (rsID / SNP)

rs148934699

KIF1C

rs148934699 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF1C. Location: chromosome 17, position 4,925,475. 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
17:4925475
Cytoband
17p13.2
HGVS
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)
Allele change
Missense_P700L

Associated conditions / phenotypes

Spastic ataxia 2|Hereditary spastic paraplegia

Public references

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