Variant (rsID / SNP)

rs121908131

rs121908131 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APTX. Location: chromosome 9, position 32,984,782. Clinical significance in the table: Pathogenic.

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Reference-table entries

APTXPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:32984782
Cytoband: 9p21.1
HGVS: NM_001195248.2(APTX):c.617C>T (p.Pro206Leu)
Allele change: Missense_P220L

Associated conditions / phenotypes

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

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.