Variant (rsID / SNP)

rs141224290

rs141224290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF1B. Location: chromosome 1, position 10,403,292. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KIF1BBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:10403292
Cytoband: 1p36.22
HGVS: NM_001365951.3(KIF1B):c.3635C>T (p.Pro1212Leu)
Allele change: Missense_P1166L

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2|Hereditary cancer-predisposing syndrome|Charcot-Marie-Tooth disease

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.