Variant (rsID / SNP)

rs201500946

rs201500946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF1B. Location: chromosome 1, position 10,355,147. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KIF1BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:10355147
Cytoband: 1p36.22
HGVS: NM_001365951.3(KIF1B):c.1594C>G (p.Pro532Ala)
Allele change: Missense_P486A

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2|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.