Variant (rsID / SNP)

rs145062338

rs145062338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF5A. Location: chromosome 12, position 57,971,842. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KIF5ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:57971842
Cytoband: 12q13.3
HGVS: NM_004984.4(KIF5A):c.2412C>T (p.Asp804=)
Allele change: Synonymous_D715D

Associated conditions / phenotypes

Spastic paraplegia|Hereditary spastic paraplegia 10|Hereditary spastic paraplegia

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.