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Variant (rsID / SNP)

rs672601370

KIF1A

rs672601370 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF1A. Location: chromosome 2, position 241,715,280. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KIF1APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:241715280
Cytoband
2q37.3
HGVS
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)
Allele change
Missense_R316W

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 9|Inborn genetic diseases|Hereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C|Intellectual disability, autosomal dominant 9|Neuropathy, hereditary sensory and autonomic, type 2A|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.