APTX Chromosome 9
Aprataxin
Upload your DNA to see your personal genotypes for variants in APTX.
What This Gene Does
This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
Gene Info
Gene Group
"Zinc fingers C2H2-type|Histidine triad superfamily"
Locus Type
gene with protein product
Location
9p21.1
Ensembl
ENSG00000137074
Associated Conditions (10)
Ataxia
early-onset
with oculomotor apraxia and hypoalbuminemia
Inborn genetic diseases
APTX-related disorder
Thymoma
Colon adenocarcinoma
Hepatocellular carcinoma
Hereditary ataxia
Epilepsy
Key Variants
RS111392103
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS113391831
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS140355580
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS140888559
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS141195622
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS141493373
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS144076460
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS146487634
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS1554664711
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS1828552847
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS201736194
Conflicting classifications of pathogenicity
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Health Risk
RS367998288
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111392103 | Health Risk | Conflicting classifications of pathogenicity | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS113391831 | Health Risk | Conflicting classifications of pathogenicity | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS140355580 | Health Risk | Conflicting classifications of pathogenicity | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS140888559 | Health Risk | Conflicting classifications of pathogenicity | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS141195622 | Health Risk | Conflicting classifications of pathogenicity | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS141493373 | Health Risk | Conflicting classifications of pathogenicity | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS144076460 | Health Risk | Conflicting classifications of pathogenicity | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS146487634 | Health Risk | Conflicting classifications of pathogenicity | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS1554664711 | Health Risk | Conflicting classifications of pathogenicity | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS1828552847 | Health Risk | Conflicting classifications of pathogenicity | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS201736194 | Health Risk | Conflicting classifications of pathogenicity | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS367998288 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371868908 | Health Risk | Conflicting classifications of pathogenicity | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS747334007 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751250105 | Health Risk | Conflicting classifications of pathogenicity | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS753537901 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774597262 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781480218 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1563963464 | Health Risk | Likely pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS1563967576 | Health Risk | Likely pathogenic | — |
| RS1587435802 | Health Risk | Likely pathogenic | — |
| RS1587449274 | Health Risk | Likely pathogenic | — |
| RS2489293675 | Health Risk | Likely pathogenic | — |
| RS2489448115 | Health Risk | Likely pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS267606665 | Health Risk | Likely pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS748165574 | Health Risk | Likely pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS104894103 | Health Risk | Pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS1114167423 | Health Risk | Pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS121908131 | Health Risk | Pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS121908132 | Health Risk | Pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS121908133 | Health Risk | Pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS1428108985 | Health Risk | Pathogenic | — |
| RS1563945076 | Health Risk | Pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS1563961179 | Health Risk | Pathogenic | — |
| RS1587330671 | Health Risk | Pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS2118681567 | Health Risk | Pathogenic | — |
| RS2118686800 | Health Risk | Pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS2118688818 | Health Risk | Pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS2118806684 | Health Risk | Pathogenic | — |
| RS2489453836 | Health Risk | Pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS2489584021 | Health Risk | Pathogenic | — |
| RS587776593 | Health Risk | Pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS587776594 | Health Risk | Pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS752700668 | Health Risk | Pathogenic | — |
| RS754477154 | Health Risk | Pathogenic | — |
| RS770579215 | Health Risk | Pathogenic | — |
| RS778258042 | Health Risk | Pathogenic | Epilepsy, Epilepsy |
| RS1015321377 | Health Risk | Pathogenic/Likely pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS1225927323 | Health Risk | Pathogenic/Likely pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| RS201912053 | Health Risk | Pathogenic/Likely pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |