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Variant (rsID / SNP)

rs571475924

APTX

rs571475924 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APTX. Location: chromosome 9, position 32,984,637. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

APTXConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:32984637
Cytoband
9p21.1
HGVS
NM_001195248.2(APTX):c.762G>A (p.Pro254=)
Allele change
Synonymous_P268P

Associated conditions / phenotypes

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia|Coenzyme Q10 deficiency, Oculomotor Apraxia Type

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.