Variant (rsID / SNP)

rs74863106

rs74863106 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBXO38. Location: chromosome 5, position 147,778,631. Clinical significance in the table: Benign.

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Reference-table entries

FBXO38Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:147778631
Cytoband: 5q32
HGVS: NM_205836.3(FBXO38):c.198A>G (p.Leu66=)
Allele change: Synonymous_L66L

Associated conditions / phenotypes

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.