Variant (rsID / SNP)

rs386834146

rs386834146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TWNK. Location: chromosome 10, position 102,749,544. Clinical significance in the table: Pathogenic.

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Reference-table entries

TWNKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:102749544
Cytoband: 10q24.31
HGVS: NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp)
Allele change: Missense_R463W

Associated conditions / phenotypes

Infantile onset spinocerebellar ataxia

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.