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 |
|---|---|---|---|
| RS559553527 | Health Risk | Likely pathogenic | Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome |
| RS764423616 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 5, Melanoma, Aicardi-Goutieres syndrome 5 |
| RS780504624 | Health Risk | Likely pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS1180941945 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS121434516 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS121434517 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome, Chilblain lupus 2 |
| RS121434518 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS121434519 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Chilblain lupus 2, Aicardi-Goutieres syndrome 5 |
| RS121434520 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS1219206348 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS1239410431 | Health Risk | Pathogenic | — |
| RS1257890707 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS1328663348 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS1336571464 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS1341219224 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS1442728513 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS1568762986 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS1601113209 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS1601144527 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS1641554114 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS1656506214 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS1684124082 | Health Risk | Pathogenic | Cerebral palsy, Cerebral palsy |
| RS1794524337 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2063392759 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2063399418 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2063446897 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2063478568 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2063480012 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2063541685 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2063594580 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2063734182 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2146116814 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2146127824 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2146131738 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2146160463 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2146160649 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2148355967 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome, Aicardi-Goutieres syndrome 5 |
| RS2148359722 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2148359769 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2148360598 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2148365710 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515217684 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515218976 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515219038 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515219215 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515227348 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515228923 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515236081 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515236164 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |
| RS2515236180 | Health Risk | Pathogenic | Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5 |