Variant (rsID / SNP)

rs147066476

rs147066476 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIF1B. Location: chromosome 1, position 10,425,550. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KIF1BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:10425550
Cytoband: 1p36.22
HGVS: NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=)
Allele change: Synonymous_P1486P

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.