Variant (rsID / SNP)

rs28365054

rs28365054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TDP1. Location: chromosome 14, position 90,429,858. Clinical significance in the table: Benign.

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Reference-table entries

TDP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:90429858
Cytoband: 14q32.11
HGVS: NM_018319.4(TDP1):c.400G>A (p.Ala134Thr)
Allele change: Missense_A134T

Associated conditions / phenotypes

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

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.