Variant (rsID / SNP)

rs372131378

rs372131378 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF5A. Location: chromosome 12, position 57,944,192. Clinical significance in the table: Likely benign.

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Reference-table entries

KIF5ALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:57944192
Cytoband: 12q13.3
HGVS: NM_004984.4(KIF5A):c.129+9C>T
Allele change: Silent

Associated conditions / phenotypes

Spastic paraplegia|Hereditary spastic paraplegia 10

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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