Variant (rsID / SNP)
rs797045164
rs797045164 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF1A. Location: chromosome 2, position 241,724,480. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
KIF1APathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:241724480
- Cytoband
- 2q37.3
- HGVS
- NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys)
- Allele change
- Missense_R216C
Associated conditions / phenotypes
Intellectual 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.