Variant (rsID / SNP)

rs144076460

rs144076460 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APTX. Location: chromosome 9, position 32,989,872. Clinical significance in the table: Uncertain significance.

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Reference-table entries

APTXUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:32989872
Cytoband: 9p21.1
HGVS: NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
Allele change: Missense_W20C

Associated conditions / phenotypes

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 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.