ADSS1 Chromosome 14
Adenylosuccinate synthase 1
Upload your DNA to see your personal genotypes for variants in ADSS1.
What This Gene Does
This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Associated Conditions (10)
Myopathy
distal
5
ADSS1-related disorder
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Colon adenocarcinoma
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Key Variants
RS111588752
Conflicting classifications of pathogenicity
Myopathy, distal, 5
Health Risk
RS141465951
Conflicting classifications of pathogenicity
Myopathy, distal, 5
Health Risk
RS2541995490
Conflicting classifications of pathogenicity
Health Risk
RS753588351
Conflicting classifications of pathogenicity
Myopathy, distal, 5
Health Risk
RS1890853802
Likely pathogenic
Myopathy, distal, 5
Health Risk
RS2140833479
Likely pathogenic
Health Risk
RS376223981
Likely pathogenic
Ovarian serous cystadenocarcinoma, Acute myeloid leukemia, Ovarian serous cystadenocarcinoma
Health Risk
RS761489014
Likely pathogenic
Colon adenocarcinoma, Colon adenocarcinoma
Health Risk
RS767003671
Likely pathogenic
Health Risk
RS774425831
Likely pathogenic
Myopathy, distal, 5
Health Risk
RS946575582
Likely pathogenic
Health Risk
RS1175622794
Pathogenic
Myopathy, distal, 5
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111588752 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, distal, 5 |
| RS141465951 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, distal, 5 |
| RS2541995490 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753588351 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, distal, 5 |
| RS1890853802 | Health Risk | Likely pathogenic | Myopathy, distal, 5 |
| RS2140833479 | Health Risk | Likely pathogenic | — |
| RS376223981 | Health Risk | Likely pathogenic | Ovarian serous cystadenocarcinoma, Acute myeloid leukemia, Ovarian serous cystadenocarcinoma |
| RS761489014 | Health Risk | Likely pathogenic | Colon adenocarcinoma, Colon adenocarcinoma |
| RS767003671 | Health Risk | Likely pathogenic | — |
| RS774425831 | Health Risk | Likely pathogenic | Myopathy, distal, 5 |
| RS946575582 | Health Risk | Likely pathogenic | — |
| RS1175622794 | Health Risk | Pathogenic | Myopathy, distal, 5 |
| RS1358620767 | Health Risk | Pathogenic | — |
| RS1415601575 | Health Risk | Pathogenic | — |
| RS1891337397 | Health Risk | Pathogenic | — |
| RS1891497352 | Health Risk | Pathogenic | Myopathy, distal, 5 |
| RS2140828534 | Health Risk | Pathogenic | — |
| RS2542040039 | Health Risk | Pathogenic | — |
| RS2542049491 | Health Risk | Pathogenic | — |
| RS559454746 | Health Risk | Pathogenic | Myopathy, distal, 5 |
| RS760706338 | Health Risk | Pathogenic | — |
| RS769542442 | Health Risk | Pathogenic | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Myopathy |
| RS777908589 | Health Risk | Pathogenic | — |
| RS781756056 | Health Risk | Pathogenic | — |
| RS140614802 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, distal, 5 |
| RS1566800987 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, distal, 5 |
| RS756832498 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, distal, 5 |