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SAMHD1

Synonyms
CHBL2, DCIP, HDDC1, MOP-5, SBBI88, hSAMHD1
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
16
Likely pathogenic
0
VUS
4,089
Likely benign
437
Benign
2,207

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on SAMHD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.7%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
20%
Abnormality of the ear
13.3%
Abnormality of the endocrine system
13.3%
Abnormal cellular phenotype
6.7%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of the cardiovascular system
6.7%
Abnormality of the eye
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of the immune system
6.7%
Constitutional symptom
6.7%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%
Neoplasm
0%

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