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Variant (rsID / SNP)

rs387906799

KIF1A

rs387906799 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF1A. Location: chromosome 2, position 241,727,535. Clinical significance in the table: Pathogenic.

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Reference-table entries

KIF1APathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:241727535
Cytoband
2q37.3
HGVS
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met)
Allele change
Missense_T99M

Associated conditions / phenotypes

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

Public references

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