ASNS Chromosome 7
Asparagine synthetase (glutamine-hydrolyzing)
Upload your DNA to see your personal genotypes for variants in ASNS.
What This Gene Does
The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
Associated Conditions (10)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Inborn genetic diseases
ASNS-related disorder
Neurodevelopmental abnormality
Abnormal cerebral morphology
Spinocerebellar ataxia
autosomal recessive 29
Neurodevelopmental delay
Pancreatic adenocarcinoma
Gastric cancer
Key Variants
RS1140424
Conflicting classifications of pathogenicity
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Health Risk
RS1252577998
Conflicting classifications of pathogenicity
Health Risk
RS1360484422
Conflicting classifications of pathogenicity
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Health Risk
RS146656175
Conflicting classifications of pathogenicity
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Inborn genetic diseases, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Health Risk
RS148111963
Conflicting classifications of pathogenicity
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Health Risk
RS149193118
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1791279467
Conflicting classifications of pathogenicity
Health Risk
RS1792120689
Conflicting classifications of pathogenicity
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Health Risk
RS201432154
Conflicting classifications of pathogenicity
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Health Risk
RS2115608872
Conflicting classifications of pathogenicity
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Health Risk
RS375234125
Conflicting classifications of pathogenicity
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Health Risk
RS61733327
Conflicting classifications of pathogenicity
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, ASNS-related disorder, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Health Risk
All Variants (140)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS746511283 | Health Risk | Likely pathogenic | — |
| RS755705038 | Health Risk | Likely pathogenic | — |
| RS774808316 | Health Risk | Likely pathogenic | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Spinocerebellar ataxia, autosomal recessive 29 |
| RS780288372 | Health Risk | Likely pathogenic | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS781082812 | Health Risk | Likely pathogenic | Abnormal cerebral morphology, Abnormal cerebral morphology |
| RS797045306 | Health Risk | Likely pathogenic | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS1168688853 | Health Risk | Pathogenic | — |
| RS1183100703 | Health Risk | Pathogenic | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS1197097532 | Health Risk | Pathogenic | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS1351649810 | Health Risk | Pathogenic | — |
| RS1421192810 | Health Risk | Pathogenic | — |
| RS1444075141 | Health Risk | Pathogenic | — |
| RS1481539409 | Health Risk | Pathogenic | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS1562817048 | Health Risk | Pathogenic | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS1562823624 | Health Risk | Pathogenic | — |
| RS1791258447 | Health Risk | Pathogenic | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS1791259662 | Health Risk | Pathogenic | — |
| RS1791261153 | Health Risk | Pathogenic | — |
| RS1791383191 | Health Risk | Pathogenic | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS1791872386 | Health Risk | Pathogenic | — |
| RS1792123022 | Health Risk | Pathogenic | ASNS-related disorder, ASNS-related disorder |
| RS2115582732 | Health Risk | Pathogenic | — |
| RS2115590426 | Health Risk | Pathogenic | — |
| RS2115591817 | Health Risk | Pathogenic | — |
| RS2115593984 | Health Risk | Pathogenic | — |
| RS2115649690 | Health Risk | Pathogenic | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS2115655031 | Health Risk | Pathogenic | — |
| RS2115655242 | Health Risk | Pathogenic | — |
| RS2115655369 | Health Risk | Pathogenic | — |
| RS2115660227 | Health Risk | Pathogenic | — |
| RS2115660310 | Health Risk | Pathogenic | — |
| RS2115661145 | Health Risk | Pathogenic | — |
| RS2115753236 | Health Risk | Pathogenic | — |
| RS2115753664 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2484623271 | Health Risk | Pathogenic | — |
| RS2484624216 | Health Risk | Pathogenic | — |
| RS2484628072 | Health Risk | Pathogenic | — |
| RS2484628083 | Health Risk | Pathogenic | — |
| RS2484629018 | Health Risk | Pathogenic | — |
| RS2484636604 | Health Risk | Pathogenic | Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
| RS2484636748 | Health Risk | Pathogenic | — |
| RS2484636781 | Health Risk | Pathogenic | — |
| RS2484636920 | Health Risk | Pathogenic | — |
| RS2484642389 | Health Risk | Pathogenic | — |
| RS2484642712 | Health Risk | Pathogenic | — |
| RS2484649601 | Health Risk | Pathogenic | — |
| RS2484650196 | Health Risk | Pathogenic | — |
| RS2484656208 | Health Risk | Pathogenic | — |
| RS2484656322 | Health Risk | Pathogenic | — |
| RS2484659748 | Health Risk | Pathogenic | — |