SAMHD1 Chromosome 20
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
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What This Gene Does
This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Sterile alpha motif domain containing
Locus Type
gene with protein product
Location
20q11.23
Ensembl
ENSG00000101347
Associated Conditions (8)
Aicardi-Goutieres syndrome 5
Inborn genetic diseases
Chilblain lupus 2
Aicardi Goutieres syndrome
Multiple myeloma
Melanoma
SAMHD1-related disorder
Cerebral palsy
Key Variants
RS1356154563
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
Health Risk
RS1399199211
Conflicting classifications of pathogenicity
Inborn genetic diseases, Aicardi-Goutieres syndrome 5, Inborn genetic diseases
Health Risk
RS142162198
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5
Health Risk
RS142393072
Conflicting classifications of pathogenicity
Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
Health Risk
RS143588093
Conflicting classifications of pathogenicity
Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Chilblain lupus 2
Health Risk
RS1448113794
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5
Health Risk
RS145735112
Conflicting classifications of pathogenicity
Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
Health Risk
RS147220022
Conflicting classifications of pathogenicity
Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Chilblain lupus 2
Health Risk
RS147240777
Conflicting classifications of pathogenicity
Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
Health Risk
RS150713148
Conflicting classifications of pathogenicity
Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 5, Inborn genetic diseases
Health Risk
RS17853622
Conflicting classifications of pathogenicity
Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5
Health Risk
RS199721283
Conflicting classifications of pathogenicity
Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Chilblain lupus 2
Health Risk
All Variants (142)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2515236275 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515236292 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515237951 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515244156 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515244334 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515244774 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515247402 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515264064 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515264339 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515272357 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515286349 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS369587937 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS387906948 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS515726141 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, SAMHD1-related disorder, Chilblain lupus 2 |
| RS515726143 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS515726146 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS747918559 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS750807433 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5 |
| RS752942007 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS752962934 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS754917229 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS756338119 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS759706198 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS769561543 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS772935302 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS775651203 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS779028596 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS1300333132 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5 |
| RS1335417539 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5 |
| RS138603088 | Health Risk | Pathogenic/Likely pathogenic | Chilblain lupus 2, Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome |
| RS139804668 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5 |
| RS149846637 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 5 |
| RS2146127849 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5 |
| RS2515244609 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5 |
| RS2515286035 | Health Risk | Pathogenic/Likely pathogenic | SAMHD1-related disorder, Aicardi-Goutieres syndrome 5, SAMHD1-related disorder |
| RS267607027 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome, Chilblain lupus 2 |
| RS369035155 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS752442185 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Inborn genetic diseases |
| RS768019897 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5 |
| RS768409471 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome, Chilblain lupus 2 |
| RS773852483 | Health Risk | Pathogenic/Likely pathogenic | Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 5, Chilblain lupus 2 |
| RS774964432 | Health Risk | Pathogenic/Likely pathogenic | Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome, Chilblain lupus 2 |