Variant (rsID / SNP)

rs142117467

rs142117467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBXO38. Location: chromosome 5, position 147,788,749. Clinical significance in the table: Likely benign.

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Reference-table entries

FBXO38Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:147788749
Cytoband: 5q32
HGVS: NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile)
Allele change: Missense_L311I

Associated conditions / phenotypes

Charcot-Marie-Tooth disease|Distal hereditary motor neuropathy type 2

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.