Variant (rsID / SNP)
rs140015591
rs140015591 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF1B. Location: chromosome 1, position 10,384,871. Clinical significance in the table: Likely benign.
Reference-table entries
KIF1BLikely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:10384871
- Cytoband
- 1p36.22
- HGVS
- NM_001365951.3(KIF1B):c.2593A>C (p.Ser865Arg)
- Allele change
- Missense_S819R
Associated conditions / phenotypes
Charcot-Marie-Tooth disease type 2|Neuroblastoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.