Variant (rsID / SNP)

rs140017120

rs140017120 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF1A. Location: chromosome 2, position 241,737,182. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KIF1ALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:241737182
Cytoband: 2q37.3
HGVS: NM_001244008.2(KIF1A):c.-13G>A
Allele change: Silent

Associated conditions / phenotypes

Hereditary spastic paraplegia 30

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.