Variant (rsID / SNP)
rs370286749
rs370286749 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF1A. Location: chromosome 2, position 241,685,184. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
KIF1AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:241685184
- Cytoband
- 2q37.3
- HGVS
- NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
- Allele change
- Synonymous_A1023A
Associated conditions / phenotypes
History of neurodevelopmental disorder|Neuropathy, hereditary sensory, type 2C|Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30|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.