SAMD9L Chromosome 7
Sterile alpha motif domain containing 9 like
Upload your DNA to see your personal genotypes for variants in SAMD9L.
What This Gene Does
This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
Sterile alpha motif domain containing
Locus Type
gene with protein product
Location
7q21.2
Ensembl
ENSG00000177409
Associated Conditions (9)
Inborn genetic diseases
Microcephaly
Monosomy 7 myelodysplasia and leukemia syndrome 1
Ataxia-pancytopenia syndrome
Spinocerebellar ataxia 49
SAMD9L-related disorder
Primary ciliary dyskinesia 12
Intellectual disability
interferonopathy
Key Variants
RS1053923190
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1248188387
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1258256090
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1269419908
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1309069299
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140271757
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141945092
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144026608
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144236612
Conflicting classifications of pathogenicity
Microcephaly, Monosomy 7 myelodysplasia and leukemia syndrome 1, Ataxia-pancytopenia syndrome
Health Risk
RS144605831
Conflicting classifications of pathogenicity
SAMD9L-related disorder, SAMD9L-related disorder
Health Risk
RS144879990
Conflicting classifications of pathogenicity
SAMD9L-related disorder, Inborn genetic diseases, SAMD9L-related disorder
Health Risk
RS146611034
Conflicting classifications of pathogenicity
Monosomy 7 myelodysplasia and leukemia syndrome 1, SAMD9L-related disorder, Inborn genetic diseases
Health Risk
All Variants (88)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754031991 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756104818 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759143613 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760966930 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763724281 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764239040 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769206388 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769611275 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-pancytopenia syndrome, SAMD9L-related disorder, Ataxia-pancytopenia syndrome |
| RS772266411 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772819846 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS773313289 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Ataxia-pancytopenia syndrome, Inborn genetic diseases |
| RS773878792 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774003032 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774463519 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774643105 | Health Risk | Conflicting classifications of pathogenicity | Ataxia-pancytopenia syndrome, Inborn genetic diseases, Ataxia-pancytopenia syndrome |
| RS774780933 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776606453 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778278292 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778403432 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779246898 | Health Risk | Conflicting classifications of pathogenicity | SAMD9L-related disorder, SAMD9L-related disorder |
| RS780573740 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS780673328 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS780776637 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS930034802 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1562795586 | Health Risk | Likely pathogenic | — |
| RS1792213890 | Health Risk | Likely pathogenic | Ataxia-pancytopenia syndrome, Ataxia-pancytopenia syndrome |
| RS1792226793 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2116467712 | Health Risk | Likely pathogenic | Monosomy 7 myelodysplasia and leukemia syndrome 1, Monosomy 7 myelodysplasia and leukemia syndrome 1 |
| RS2116485921 | Health Risk | Likely pathogenic | — |
| RS2116486108 | Health Risk | Likely pathogenic | interferonopathy, interferonopathy |
| RS2116506727 | Health Risk | Likely pathogenic | Monosomy 7 myelodysplasia and leukemia syndrome 1, Monosomy 7 myelodysplasia and leukemia syndrome 1 |
| RS2535403044 | Health Risk | Likely pathogenic | — |
| RS2535421216 | Health Risk | Likely pathogenic | — |
| RS2535423064 | Health Risk | Likely pathogenic | SAMD9L-related disorder, SAMD9L-related disorder |
| RS1554341277 | Health Risk | Pathogenic | Ataxia-pancytopenia syndrome, Ataxia-pancytopenia syndrome |
| RS1792140365 | Health Risk | Pathogenic | Monosomy 7 myelodysplasia and leukemia syndrome 1, Monosomy 7 myelodysplasia and leukemia syndrome 1 |
| RS2116469012 | Health Risk | Pathogenic | — |
| RS878855336 | Health Risk | Pathogenic | Ataxia-pancytopenia syndrome, Monosomy 7 myelodysplasia and leukemia syndrome 1, SAMD9L-related disorder |