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Variant (rsID / SNP)

rs141195622

APTX

rs141195622 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APTX. Location: chromosome 9, position 32,984,657. 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
9:32984657
Cytoband
9p21.1
HGVS
NM_001195248.2(APTX):c.742T>A (p.Leu248Met)
Allele change
Missense_L262M

Associated conditions / phenotypes

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

Public references

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