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Variant (rsID / SNP)

rs113247976

KIF5A

rs113247976 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF5A. Location: chromosome 12, position 57,975,700. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KIF5AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:57975700
Cytoband
12q13.3
HGVS
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)
Allele change
Missense_P897L

Associated conditions / phenotypes

Hereditary spastic paraplegia 10|Spastic paraplegia|Amyotrophic lateral sclerosis|Hereditary spastic paraplegia

Public references

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