Gene entry
KIF1A
kinesin family member 1A
- Chromosome
- 2
- Cytoband
- 2q37.3
- Variants (rsID)
- 56
KIF1A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q37.3). Its official name is “kinesin family member 1A”. The reference table lists 56 variants (rsID) for this gene.
Clinically classified variants
23 reference-table entries with clinical significance.
- rs116600932Benignsingle nucleotide variantHereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C|Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30
- rs3732338Benignsingle nucleotide variantHereditary spastic paraplegia 30
- rs4414678Benignsingle nucleotide variant
- rs7566538Benignsingle nucleotide variantHereditary spastic paraplegia 30
- rs183359489Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 30|History of neurodevelopmental disorder|Neuropathy, hereditary sensory, type 2C|Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30|Intellectual disability|Hereditary spastic paraplegia
- rs186881889Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C|Intellectual disability, autosomal dominant 9|History of neurodevelopmental disorder|Hereditary spastic paraplegia 30|Hereditary spastic paraplegia
- rs192836330Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C|Hereditary spastic paraplegia 30|Intellectual disability, autosomal dominant 9
- rs199996308Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 30|Hereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C|Intellectual disability, autosomal dominant 9|History of neurodevelopmental disorder|Hereditary spastic paraplegia
- rs200149062Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Neuropathy, hereditary sensory, type 2C|Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30|Hereditary spastic paraplegia 30|Hereditary spastic paraplegia
- rs201139273Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C|Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia
- rs201242759Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C|Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30|Hereditary spastic paraplegia
- rs201456681Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C|Hereditary spastic paraplegia 30|Intellectual disability, autosomal dominant 9
- rs370286749Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Neuropathy, hereditary sensory, type 2C|Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30|Hereditary spastic paraplegia 30|Hereditary spastic paraplegia
- rs376552408Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C|Hereditary spastic paraplegia 30|Intellectual disability, autosomal dominant 9|Spastic paraplegia|Hereditary spastic paraplegia
- rs572013653Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C|Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30
- rs672601368Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal dominant 9
- rs74469870Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C|Hereditary spastic paraplegia 30|Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia
- rs750461872Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C|Hereditary spastic paraplegia 30|Intellectual disability, autosomal dominant 9
- rs797045655Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C|Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30|Hereditary spastic paraplegia
- rs140017120Likely benignsingle nucleotide variantHereditary spastic paraplegia 30
- rs387906799Pathogenicsingle nucleotide variantIntellectual disability, autosomal dominant 9|PEHO syndrome|Neuropathy, hereditary sensory, type 2C|Hereditary spastic paraplegia 30|Intellectual disability, autosomal dominant 9
- rs672601370Pathogenicsingle nucleotide variantIntellectual 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
- rs797045164Pathogenicsingle nucleotide variantIntellectual disability, autosomal dominant 9|PEHO syndrome|Hereditary spastic paraplegia 30|Hereditary spastic paraplegia 30|Neuropathy, hereditary sensory, type 2C|Intellectual disability, autosomal dominant 9|Syndromic intellectual disability
Other listed variants
- rs755300
- rs2060194
- rs2241680
- rs3755538
- rs3772054
- rs3772059
- rs3821344
- rs6746528
- rs7568395
- rs7598218
- rs13010358
- rs13027102
- rs58897072
- rs59733750
- rs61049257
- rs61257025
- rs74002926
- rs76012660
- rs78110255
- rs79520531
- rs80168476
- rs114406002
- rs114466649
- rs114954029
- rs115056533
- rs115289396
- rs115520357
- rs115850070
- rs116040950
- rs150496180
- rs182395595
- rs189959927
- rs200257048
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.