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Variant (rsID / SNP)

rs201242759

KIF1A

rs201242759 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF1A. Location: chromosome 2, position 241,710,508. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KIF1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:241710508
Cytoband
2q37.3
HGVS
NM_001244008.2(KIF1A):c.1221G>A (p.Leu407=)
Allele change
Synonymous_L407L

Associated conditions / phenotypes

Hereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C|Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30|Hereditary spastic paraplegia

Public references

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