PSAT1 Chromosome 9
Phosphoserine aminotransferase 1
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What This Gene Does
This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associated with phosphoserine aminotransferase deficiency. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
Transaminases
Locus Type
gene with protein product
Location
9q21.2
Ensembl
ENSG00000135069
Associated Conditions (5)
PSAT deficiency
Neu-Laxova syndrome 2
PSAT1-related disorder
Cervical cancer
Neurometabolic disorder due to serine deficiency
Key Variants
RS1057515672
Conflicting classifications of pathogenicity
PSAT deficiency, Neu-Laxova syndrome 2, PSAT deficiency
Health Risk
RS113824905
Conflicting classifications of pathogenicity
Neu-Laxova syndrome 2, PSAT deficiency, Neu-Laxova syndrome 2
Health Risk
RS116103106
Conflicting classifications of pathogenicity
PSAT deficiency, Neu-Laxova syndrome 2, PSAT deficiency
Health Risk
RS142975997
Conflicting classifications of pathogenicity
PSAT deficiency, Neu-Laxova syndrome 2, PSAT1-related disorder
Health Risk
RS145496413
Conflicting classifications of pathogenicity
PSAT deficiency, Neu-Laxova syndrome 2, PSAT1-related disorder
Health Risk
RS149101687
Conflicting classifications of pathogenicity
Neu-Laxova syndrome 2, PSAT1-related disorder, Neu-Laxova syndrome 2
Health Risk
RS202026355
Conflicting classifications of pathogenicity
PSAT deficiency, Neu-Laxova syndrome 2, PSAT deficiency
Health Risk
RS369944396
Conflicting classifications of pathogenicity
Neu-Laxova syndrome 2, PSAT deficiency, Neu-Laxova syndrome 2
Health Risk
RS372232840
Conflicting classifications of pathogenicity
PSAT deficiency, Neu-Laxova syndrome 2, PSAT deficiency
Health Risk
RS587777778
Conflicting classifications of pathogenicity
Neu-Laxova syndrome 2, PSAT1-related disorder, PSAT deficiency
Health Risk
RS762436279
Conflicting classifications of pathogenicity
PSAT deficiency, Neu-Laxova syndrome 2, PSAT1-related disorder
Health Risk
RS763694865
Conflicting classifications of pathogenicity
PSAT deficiency, Neu-Laxova syndrome 2, PSAT deficiency
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057515672 | Health Risk | Conflicting classifications of pathogenicity | PSAT deficiency, Neu-Laxova syndrome 2, PSAT deficiency |
| RS113824905 | Health Risk | Conflicting classifications of pathogenicity | Neu-Laxova syndrome 2, PSAT deficiency, Neu-Laxova syndrome 2 |
| RS116103106 | Health Risk | Conflicting classifications of pathogenicity | PSAT deficiency, Neu-Laxova syndrome 2, PSAT deficiency |
| RS142975997 | Health Risk | Conflicting classifications of pathogenicity | PSAT deficiency, Neu-Laxova syndrome 2, PSAT1-related disorder |
| RS145496413 | Health Risk | Conflicting classifications of pathogenicity | PSAT deficiency, Neu-Laxova syndrome 2, PSAT1-related disorder |
| RS149101687 | Health Risk | Conflicting classifications of pathogenicity | Neu-Laxova syndrome 2, PSAT1-related disorder, Neu-Laxova syndrome 2 |
| RS202026355 | Health Risk | Conflicting classifications of pathogenicity | PSAT deficiency, Neu-Laxova syndrome 2, PSAT deficiency |
| RS369944396 | Health Risk | Conflicting classifications of pathogenicity | Neu-Laxova syndrome 2, PSAT deficiency, Neu-Laxova syndrome 2 |
| RS372232840 | Health Risk | Conflicting classifications of pathogenicity | PSAT deficiency, Neu-Laxova syndrome 2, PSAT deficiency |
| RS587777778 | Health Risk | Conflicting classifications of pathogenicity | Neu-Laxova syndrome 2, PSAT1-related disorder, PSAT deficiency |
| RS762436279 | Health Risk | Conflicting classifications of pathogenicity | PSAT deficiency, Neu-Laxova syndrome 2, PSAT1-related disorder |
| RS763694865 | Health Risk | Conflicting classifications of pathogenicity | PSAT deficiency, Neu-Laxova syndrome 2, PSAT deficiency |
| RS775726256 | Health Risk | Conflicting classifications of pathogenicity | PSAT deficiency, Neu-Laxova syndrome 2, PSAT deficiency |
| RS1828113460 | Health Risk | Likely pathogenic | PSAT deficiency, PSAT deficiency |
| RS1828216198 | Health Risk | Likely pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS199998249 | Health Risk | Likely pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS2118643983 | Health Risk | Likely pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS2489645698 | Health Risk | Likely pathogenic | PSAT1-related disorder, Neu-Laxova syndrome 2, PSAT1-related disorder |
| RS2489650770 | Health Risk | Likely pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS772958302 | Health Risk | Likely pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS919827103 | Health Risk | Likely pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS1008314756 | Health Risk | Pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS1057517807 | Health Risk | Pathogenic | Neu-Laxova syndrome 2, PSAT1-related disorder, Neu-Laxova syndrome 2 |
| RS148598272 | Health Risk | Pathogenic | PSAT deficiency, Neu-Laxova syndrome 2, PSAT deficiency |
| RS1554686365 | Health Risk | Pathogenic | PSAT deficiency, PSAT deficiency |
| RS1564012541 | Health Risk | Pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS1828184824 | Health Risk | Pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS2118681775 | Health Risk | Pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS2489629497 | Health Risk | Pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS2489639860 | Health Risk | Pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS2489640547 | Health Risk | Pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS2489644879 | Health Risk | Pathogenic | PSAT1-related disorder, Neu-Laxova syndrome 2, PSAT1-related disorder |
| RS2489696870 | Health Risk | Pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS587777747 | Health Risk | Pathogenic | PSAT deficiency, Neu-Laxova syndrome 2, PSAT deficiency |
| RS587777776 | Health Risk | Pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS587777777 | Health Risk | Pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS756304890 | Health Risk | Pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS765723196 | Health Risk | Pathogenic | Neu-Laxova syndrome 2, Neu-Laxova syndrome 2 |
| RS118203967 | Health Risk | Pathogenic/Likely pathogenic | PSAT deficiency, Neu-Laxova syndrome 2, PSAT1-related disorder |
| RS2489629517 | Health Risk | Pathogenic/Likely pathogenic | Neu-Laxova syndrome 2, PSAT deficiency, Neu-Laxova syndrome 2 |
| RS2489697040 | Health Risk | Pathogenic/Likely pathogenic | PSAT1-related disorder, Neu-Laxova syndrome 2, PSAT1-related disorder |
| RS376824714 | Health Risk | Pathogenic/Likely pathogenic | Neu-Laxova syndrome 2, Neurometabolic disorder due to serine deficiency, Neu-Laxova syndrome 2 |