INTS1 Chromosome 7
Integrator complex subunit 1
Upload your DNA to see your personal genotypes for variants in INTS1.
What This Gene Does
INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
"Integrator complex|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
7p22.3
Ensembl
ENSG00000164880
Associated Conditions (8)
Inborn genetic diseases
INTS1-related disorder
Neurodevelopmental disorder with cataracts
poor growth
and dysmorphic facies
Malignant tumor of esophagus
Neurodevelopmental delay
See cases
Key Variants
RS138307850
Conflicting classifications of pathogenicity
Inborn genetic diseases, INTS1-related disorder, Inborn genetic diseases
Health Risk
RS138397380
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Health Risk
RS199728337
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200649090
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Health Risk
RS200828819
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Health Risk
RS201606213
Conflicting classifications of pathogenicity
INTS1-related disorder, INTS1-related disorder
Health Risk
RS201675191
Conflicting classifications of pathogenicity
Inborn genetic diseases, INTS1-related disorder, Inborn genetic diseases
Health Risk
RS202052814
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373326766
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS552723932
Conflicting classifications of pathogenicity
Health Risk
RS758158889
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with cataracts, poor growth
Health Risk
RS1053594617
Likely pathogenic
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138307850 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, INTS1-related disorder, Inborn genetic diseases |
| RS138397380 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
| RS199728337 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200649090 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
| RS200828819 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
| RS201606213 | Health Risk | Conflicting classifications of pathogenicity | INTS1-related disorder, INTS1-related disorder |
| RS201675191 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, INTS1-related disorder, Inborn genetic diseases |
| RS202052814 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373326766 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS552723932 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758158889 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with cataracts, poor growth |
| RS1053594617 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
| RS1357982637 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS1456894020 | Health Risk | Likely pathogenic | — |
| RS1782841146 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2128539437 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
| RS2128544907 | Health Risk | Likely pathogenic | See cases, See cases |
| RS770569947 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental disorder with cataracts, poor growth |
| RS774959930 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
| RS1030646527 | Health Risk | Pathogenic | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
| RS1162809128 | Health Risk | Pathogenic | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
| RS1284335313 | Health Risk | Pathogenic | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
| RS1286686353 | Health Risk | Pathogenic | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
| RS1426643237 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1432925039 | Health Risk | Pathogenic | — |
| RS1562487424 | Health Risk | Pathogenic | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
| RS2128532901 | Health Risk | Pathogenic | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
| RS2483311809 | Health Risk | Pathogenic | — |
| RS2483365234 | Health Risk | Pathogenic | — |
| RS765089897 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |