Variant (rsID / SNP)

rs147869659

rs147869659 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SBF1. Location: chromosome 22, position 50,893,019. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SBF1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:50893019
Cytoband: 22q13.33
HGVS: NM_002972.4(SBF1):c.4965G>C (p.Gln1655His)
Allele change: Missense_Q1655H

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 4B3|Toe walking

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.