ASS1 Chromosome 9
Argininosuccinate synthase 1
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What This Gene Does
The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
Associated Conditions (18)
Citrullinemia type I
Citrullinemia
ASS1-related disorder
Gastric cancer
Inborn genetic diseases
See cases
Cardiac arrhythmia
Ovarian serous cystadenocarcinoma
Papillary renal cell carcinoma type 1
mild
type II
adult-onset
Pancreatic adenocarcinoma
Thyroid cancer
nonmedullary
1
Uterine corpus endometrial carcinoma
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Key Variants
RS1043964127
Conflicting classifications of pathogenicity
Citrullinemia type I, Citrullinemia, Citrullinemia type I
Health Risk
RS121908637
Conflicting classifications of pathogenicity
Citrullinemia type I, Citrullinemia, Citrullinemia type I
Health Risk
RS121908640
Conflicting classifications of pathogenicity
Citrullinemia type I, Citrullinemia, Citrullinemia
Health Risk
RS1256882753
Conflicting classifications of pathogenicity
Citrullinemia type I, Citrullinemia, Citrullinemia type I
Health Risk
RS1311437424
Conflicting classifications of pathogenicity
Citrullinemia type I, Citrullinemia, Citrullinemia type I
Health Risk
RS138350285
Conflicting classifications of pathogenicity
Citrullinemia type I, Citrullinemia, Citrullinemia type I
Health Risk
RS139031154
Conflicting classifications of pathogenicity
Citrullinemia type I, Citrullinemia, Citrullinemia type I
Health Risk
RS140715869
Conflicting classifications of pathogenicity
Citrullinemia type I, Citrullinemia, Citrullinemia type I
Health Risk
RS141568959
Conflicting classifications of pathogenicity
Citrullinemia type I, Citrullinemia, Citrullinemia type I
Health Risk
RS143405567
Conflicting classifications of pathogenicity
Citrullinemia, Citrullinemia
Health Risk
RS145100866
Conflicting classifications of pathogenicity
Citrullinemia type I, Citrullinemia, Citrullinemia type I
Health Risk
RS145288815
Conflicting classifications of pathogenicity
Citrullinemia type I, Citrullinemia, Citrullinemia type I
Health Risk
All Variants (216)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2490531268 | Health Risk | Pathogenic | Citrullinemia, Citrullinemia |
| RS2490531312 | Health Risk | Pathogenic | Citrullinemia, Citrullinemia |
| RS2490531703 | Health Risk | Pathogenic | Citrullinemia, Citrullinemia |
| RS2490531804 | Health Risk | Pathogenic | Citrullinemia type I, Citrullinemia type I |
| RS2490582195 | Health Risk | Pathogenic | Citrullinemia, Citrullinemia |
| RS2490592318 | Health Risk | Pathogenic | Citrullinemia, Citrullinemia |
| RS2490610455 | Health Risk | Pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS2490621719 | Health Risk | Pathogenic | Citrullinemia, Citrullinemia |
| RS2490621965 | Health Risk | Pathogenic | Citrullinemia, Citrullinemia |
| RS2490622155 | Health Risk | Pathogenic | Citrullinemia, Citrullinemia |
| RS2490634930 | Health Risk | Pathogenic | Citrullinemia type I, Citrullinemia type I |
| RS377319610 | Health Risk | Pathogenic | Citrullinemia, Citrullinemia, Citrullinemia |
| RS563922134 | Health Risk | Pathogenic | Citrullinemia, Citrullinemia |
| RS746855701 | Health Risk | Pathogenic | Citrullinemia, Citrullinemia |
| RS750214431 | Health Risk | Pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS762387914 | Health Risk | Pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS763389916 | Health Risk | Pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS768394647 | Health Risk | Pathogenic | Citrullinemia, Citrullinemia |
| RS769018733 | Health Risk | Pathogenic | Citrullinemia, Citrullinemia type I, Citrullinemia |
| RS770362721 | Health Risk | Pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS770585183 | Health Risk | Pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS770944877 | Health Risk | Pathogenic | Citrullinemia type I, Citrullinemia, ASS1-related disorder |
| RS774231051 | Health Risk | Pathogenic | Citrullinemia, Citrullinemia type I, Citrullinemia type I |
| RS775305020 | Health Risk | Pathogenic | Citrullinemia type I, Citrullinemia, Inborn genetic diseases |
| RS775791516 | Health Risk | Pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS786204460 | Health Risk | Pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS786204537 | Health Risk | Pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS886043088 | Health Risk | Pathogenic | — |
| RS982830431 | Health Risk | Pathogenic | Citrullinemia type I, Citrullinemia, Pancreatic adenocarcinoma |
| RS1004492719 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS1057520659 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia type I |
| RS121908636 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS121908638 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS121908639 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia, ASS1-related disorder |
| RS121908641 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia, Inborn genetic diseases |
| RS121908643 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia, ASS1-related disorder |
| RS121908645 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS1488840592 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia, Citrullinemia type I, Citrullinemia |
| RS148918985 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia, Citrullinemia type I, Citrullinemia |
| RS1554725034 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia, Citrullinemia type I, Citrullinemia |
| RS1554725724 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS1554983719 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia type I, Citrullinemia type I |
| RS1564903969 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS1588496214 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia, ASS1-related disorder |
| RS183276875 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia |
| RS1845507027 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia, Citrullinemia type I, Citrullinemia |
| RS199751308 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS2490581988 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia, Citrullinemia type I, Citrullinemia |
| RS371265106 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia, Citrullinemia type I |
| RS372128852 | Health Risk | Pathogenic/Likely pathogenic | Citrullinemia type I, Citrullinemia, See cases |