Variant (rsID / SNP)

rs117525287

rs117525287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF1B. Location: chromosome 1, position 10,381,887. Clinical significance in the table: Benign.

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Reference-table entries

KIF1BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:10381887
Cytoband: 1p36.22
HGVS: NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser)
Allele change: Missense_N731S

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2|Neuroblastoma|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.