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Variant (rsID / SNP)

rs672601368

KIF1A

rs672601368 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF1A. Location: chromosome 2, position 241,724,479. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KIF1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:241724479
Cytoband
2q37.3
HGVS
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro)
Allele change
Missense_R216H

Associated conditions / phenotypes

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.