Variant (rsID / SNP)

rs148407227

rs148407227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR48. Location: chromosome 3, position 39,108,050. Clinical significance in the table: Uncertain significance.

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Reference-table entries

WDR48Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:39108050
Cytoband: 3p22.2
HGVS: NM_020839.4(WDR48):c.280T>G (p.Ser94Ala)
Allele change: Missense_S37A

Associated conditions / phenotypes

Hereditary spastic paraplegia

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.