Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs146436697

KIF1B

rs146436697 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF1B. Location: chromosome 1, position 10,435,053. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

KIF1BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:10435053
Cytoband
1p36.22
HGVS
NM_001365951.3(KIF1B):c.5238C>T (p.Asn1746=)
Allele change
Synonymous_N1700N

Associated conditions / phenotypes

Neuroblastoma|Charcot-Marie-Tooth disease type 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.